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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 1-43995143-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=43995143&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 43995143,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001349128.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178Lys",
"transcript": "NM_152499.4",
"protein_id": "NP_689712.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 307,
"cds_start": 533,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372318.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152499.4"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178Lys",
"transcript": "ENST00000372318.8",
"protein_id": "ENSP00000361392.3",
"transcript_support_level": 1,
"aa_start": 178,
"aa_end": null,
"aa_length": 307,
"cds_start": 533,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152499.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372318.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "n.*57G>A",
"hgvs_p": null,
"transcript": "ENST00000463846.5",
"protein_id": "ENSP00000476322.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000463846.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "n.900G>A",
"hgvs_p": null,
"transcript": "ENST00000490563.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000490563.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "n.*57G>A",
"hgvs_p": null,
"transcript": "ENST00000463846.5",
"protein_id": "ENSP00000476322.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000463846.5"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "c.641G>A",
"hgvs_p": "p.Arg214Lys",
"transcript": "ENST00000857687.1",
"protein_id": "ENSP00000527746.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 343,
"cds_start": 641,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857687.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "c.641G>A",
"hgvs_p": "p.Arg214Lys",
"transcript": "ENST00000968713.1",
"protein_id": "ENSP00000638772.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 343,
"cds_start": 641,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968713.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Arg213Lys",
"transcript": "ENST00000912585.1",
"protein_id": "ENSP00000582644.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 342,
"cds_start": 638,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912585.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "c.572G>A",
"hgvs_p": "p.Arg191Lys",
"transcript": "ENST00000912584.1",
"protein_id": "ENSP00000582643.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 320,
"cds_start": 572,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912584.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Lys",
"transcript": "NM_001349128.1",
"protein_id": "NP_001336057.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 319,
"cds_start": 569,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349128.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Lys",
"transcript": "ENST00000857683.1",
"protein_id": "ENSP00000527742.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 319,
"cds_start": 569,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857683.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178Lys",
"transcript": "NM_001349127.2",
"protein_id": "NP_001336056.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 312,
"cds_start": 533,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349127.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Arg182Lys",
"transcript": "ENST00000857689.1",
"protein_id": "ENSP00000527748.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 311,
"cds_start": 545,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857689.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "c.542G>A",
"hgvs_p": "p.Arg181Lys",
"transcript": "ENST00000857688.1",
"protein_id": "ENSP00000527747.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 310,
"cds_start": 542,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857688.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178Lys",
"transcript": "ENST00000857684.1",
"protein_id": "ENSP00000527743.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 307,
"cds_start": 533,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857684.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178Lys",
"transcript": "ENST00000968711.1",
"protein_id": "ENSP00000638770.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 307,
"cds_start": 533,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968711.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "c.530G>A",
"hgvs_p": "p.Arg177Lys",
"transcript": "ENST00000857675.1",
"protein_id": "ENSP00000527734.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 306,
"cds_start": 530,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857675.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "c.530G>A",
"hgvs_p": "p.Arg177Lys",
"transcript": "ENST00000857677.1",
"protein_id": "ENSP00000527736.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 306,
"cds_start": 530,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857677.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "c.530G>A",
"hgvs_p": "p.Arg177Lys",
"transcript": "ENST00000857679.1",
"protein_id": "ENSP00000527738.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 306,
"cds_start": 530,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857679.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Arg154Lys",
"transcript": "ENST00000857680.1",
"protein_id": "ENSP00000527739.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 283,
"cds_start": 461,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857680.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Arg154Lys",
"transcript": "ENST00000912586.1",
"protein_id": "ENSP00000582645.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 283,
"cds_start": 461,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912586.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC24",
"gene_hgnc_id": 28688,
"hgvs_c": "c.437G>A",
"hgvs_p": "p.Arg146Lys",
"transcript": "ENST00000912590.1",
"protein_id": "ENSP00000582649.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 275,
"cds_start": 437,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912590.1"
},
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"biotype": "retained_intron",
"feature": "ENST00000485811.5"
},
{
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000486064.5"
},
{
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"protein_coding": false,
"strand": true,
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],
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},
{
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"non_coding_transcript_exon_variant"
],
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{
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"biotype": "pseudogene",
"feature": "NR_146064.2"
},
{
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"protein_coding": false,
"strand": true,
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],
"exon_rank": 6,
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"transcript": "ENST00000460543.5",
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{
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],
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{
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],
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"gene_symbol": "CCDC24",
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"feature": "ENST00000486504.5"
},
{
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"3_prime_UTR_variant"
],
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"gene_symbol": "CCDC24",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"gene_symbol": "CCDC24",
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"transcript": "ENST00000472562.1",
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"biotype": "pseudogene",
"feature": "ENST00000472562.1"
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],
"gene_symbol": "CCDC24",
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"dbsnp": "rs767981831",
"frequency_reference_population": 0.000013289323,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.00000840281,
"gnomad_genomes_af": 0.000059163,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02028527855873108,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.009,
"revel_prediction": "Benign",
"alphamissense_score": 0.0893,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.951,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.09,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001349128.1",
"gene_symbol": "CCDC24",
"hgnc_id": 28688,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Lys"
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000372306.7",
"gene_symbol": "SLC6A9",
"hgnc_id": 11056,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.1625-3151C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}