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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: 17-29615797-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=29615797&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 29615797,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032854.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO6",
"gene_hgnc_id": 21356,
"hgvs_c": "c.1354G>A",
"hgvs_p": "p.Ala452Thr",
"transcript": "NM_032854.4",
"protein_id": "NP_116243.2",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 472,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000388767.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032854.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO6",
"gene_hgnc_id": 21356,
"hgvs_c": "c.1354G>A",
"hgvs_p": "p.Ala452Thr",
"transcript": "ENST00000388767.8",
"protein_id": "ENSP00000373419.3",
"transcript_support_level": 2,
"aa_start": 452,
"aa_end": null,
"aa_length": 472,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032854.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000388767.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO6",
"gene_hgnc_id": 21356,
"hgvs_c": "n.*679G>A",
"hgvs_p": null,
"transcript": "ENST00000480954.6",
"protein_id": "ENSP00000464621.1",
"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": "ENST00000480954.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO6",
"gene_hgnc_id": 21356,
"hgvs_c": "n.*679G>A",
"hgvs_p": null,
"transcript": "ENST00000480954.6",
"protein_id": "ENSP00000464621.1",
"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": "ENST00000480954.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO6",
"gene_hgnc_id": 21356,
"hgvs_c": "c.1354G>A",
"hgvs_p": "p.Ala452Thr",
"transcript": "NM_001388431.1",
"protein_id": "NP_001375360.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 472,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388431.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO6",
"gene_hgnc_id": 21356,
"hgvs_c": "c.1354G>A",
"hgvs_p": "p.Ala452Thr",
"transcript": "ENST00000345068.9",
"protein_id": "ENSP00000344562.5",
"transcript_support_level": 5,
"aa_start": 452,
"aa_end": null,
"aa_length": 472,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345068.9"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO6",
"gene_hgnc_id": 21356,
"hgvs_c": "c.1351G>A",
"hgvs_p": "p.Ala451Thr",
"transcript": "NM_001388433.1",
"protein_id": "NP_001375362.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 471,
"cds_start": 1351,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388433.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO6",
"gene_hgnc_id": 21356,
"hgvs_c": "c.1351G>A",
"hgvs_p": "p.Ala451Thr",
"transcript": "NM_001388434.1",
"protein_id": "NP_001375363.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 471,
"cds_start": 1351,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388434.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO6",
"gene_hgnc_id": 21356,
"hgvs_c": "c.1351G>A",
"hgvs_p": "p.Ala451Thr",
"transcript": "ENST00000584969.5",
"protein_id": "ENSP00000462627.1",
"transcript_support_level": 5,
"aa_start": 451,
"aa_end": null,
"aa_length": 471,
"cds_start": 1351,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000584969.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO6",
"gene_hgnc_id": 21356,
"hgvs_c": "c.1351G>A",
"hgvs_p": "p.Ala451Thr",
"transcript": "ENST00000892807.1",
"protein_id": "ENSP00000562866.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 471,
"cds_start": 1351,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892807.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO6",
"gene_hgnc_id": 21356,
"hgvs_c": "c.1351G>A",
"hgvs_p": "p.Ala451Thr",
"transcript": "ENST00000892809.1",
"protein_id": "ENSP00000562868.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 471,
"cds_start": 1351,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892809.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO6",
"gene_hgnc_id": 21356,
"hgvs_c": "c.1351G>A",
"hgvs_p": "p.Ala451Thr",
"transcript": "ENST00000892817.1",
"protein_id": "ENSP00000562876.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 471,
"cds_start": 1351,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892817.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO6",
"gene_hgnc_id": 21356,
"hgvs_c": "c.1351G>A",
"hgvs_p": "p.Ala451Thr",
"transcript": "ENST00000892818.1",
"protein_id": "ENSP00000562877.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 471,
"cds_start": 1351,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892818.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO6",
"gene_hgnc_id": 21356,
"hgvs_c": "c.1351G>A",
"hgvs_p": "p.Ala451Thr",
"transcript": "ENST00000967506.1",
"protein_id": "ENSP00000637565.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 471,
"cds_start": 1351,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967506.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO6",
"gene_hgnc_id": 21356,
"hgvs_c": "c.1348G>A",
"hgvs_p": "p.Ala450Thr",
"transcript": "ENST00000967500.1",
"protein_id": "ENSP00000637559.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 470,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967500.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO6",
"gene_hgnc_id": 21356,
"hgvs_c": "c.1348G>A",
"hgvs_p": "p.Ala450Thr",
"transcript": "ENST00000967501.1",
"protein_id": "ENSP00000637560.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 470,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967501.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO6",
"gene_hgnc_id": 21356,
"hgvs_c": "c.1348G>A",
"hgvs_p": "p.Ala450Thr",
"transcript": "ENST00000967511.1",
"protein_id": "ENSP00000637570.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 470,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967511.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO6",
"gene_hgnc_id": 21356,
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Ala449Thr",
"transcript": "ENST00000967496.1",
"protein_id": "ENSP00000637555.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 469,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967496.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO6",
"gene_hgnc_id": 21356,
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Ala449Thr",
"transcript": "ENST00000967503.1",
"protein_id": "ENSP00000637562.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 469,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967503.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO6",
"gene_hgnc_id": 21356,
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Ala446Thr",
"transcript": "ENST00000892815.1",
"protein_id": "ENSP00000562874.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 466,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892815.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO6",
"gene_hgnc_id": 21356,
"hgvs_c": "c.1276G>A",
"hgvs_p": "p.Ala426Thr",
"transcript": "ENST00000967507.1",
"protein_id": "ENSP00000637566.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 446,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967507.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO6",
"gene_hgnc_id": 21356,
"hgvs_c": "c.1249G>A",
"hgvs_p": "p.Ala417Thr",
"transcript": "ENST00000892811.1",
"protein_id": "ENSP00000562870.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 437,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.38,
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 0,
"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_032854.4",
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"effects": [
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],
"inheritance_mode": "AR",
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{
"score": -4,
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"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "ENST00000581474.1",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"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
}