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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: 5-34867045-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=34867045&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 34867045,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001386170.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.816C>G",
"hgvs_p": "p.Asn272Lys",
"transcript": "NM_144725.4",
"protein_id": "NP_653326.3",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 361,
"cds_start": 816,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000505624.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144725.4"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.816C>G",
"hgvs_p": "p.Asn272Lys",
"transcript": "ENST00000505624.6",
"protein_id": "ENSP00000422188.1",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 361,
"cds_start": 816,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144725.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505624.6"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.816C>G",
"hgvs_p": "p.Asn272Lys",
"transcript": "ENST00000610313.1",
"protein_id": "ENSP00000484792.1",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 287,
"cds_start": 816,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610313.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.816C>G",
"hgvs_p": "p.Asn272Lys",
"transcript": "ENST00000514080.2",
"protein_id": "ENSP00000497109.1",
"transcript_support_level": 2,
"aa_start": 272,
"aa_end": null,
"aa_length": 413,
"cds_start": 816,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514080.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.816C>G",
"hgvs_p": "p.Asn272Lys",
"transcript": "ENST00000698543.1",
"protein_id": "ENSP00000513788.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 411,
"cds_start": 816,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698543.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.816C>G",
"hgvs_p": "p.Asn272Lys",
"transcript": "NM_001386170.1",
"protein_id": "NP_001373099.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 407,
"cds_start": 816,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386170.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.843C>G",
"hgvs_p": "p.Asn281Lys",
"transcript": "NM_001386171.1",
"protein_id": "NP_001373100.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 373,
"cds_start": 843,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386171.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.843C>G",
"hgvs_p": "p.Asn281Lys",
"transcript": "NM_001317949.2",
"protein_id": "NP_001304878.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 370,
"cds_start": 843,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317949.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.816C>G",
"hgvs_p": "p.Asn272Lys",
"transcript": "NM_001386169.1",
"protein_id": "NP_001373098.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 369,
"cds_start": 816,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386169.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.816C>G",
"hgvs_p": "p.Asn272Lys",
"transcript": "NM_001386172.1",
"protein_id": "NP_001373101.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 361,
"cds_start": 816,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386172.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.816C>G",
"hgvs_p": "p.Asn272Lys",
"transcript": "ENST00000638320.2",
"protein_id": "ENSP00000491000.1",
"transcript_support_level": 5,
"aa_start": 272,
"aa_end": null,
"aa_length": 358,
"cds_start": 816,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638320.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.843C>G",
"hgvs_p": "p.Asn281Lys",
"transcript": "XM_017009119.3",
"protein_id": "XP_016864608.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 422,
"cds_start": 843,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009119.3"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.816C>G",
"hgvs_p": "p.Asn272Lys",
"transcript": "XM_011513984.4",
"protein_id": "XP_011512286.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 413,
"cds_start": 816,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513984.4"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.816C>G",
"hgvs_p": "p.Asn272Lys",
"transcript": "XM_017009120.3",
"protein_id": "XP_016864609.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 413,
"cds_start": 816,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009120.3"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.816C>G",
"hgvs_p": "p.Asn272Lys",
"transcript": "XM_017009121.3",
"protein_id": "XP_016864610.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 413,
"cds_start": 816,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009121.3"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.816C>G",
"hgvs_p": "p.Asn272Lys",
"transcript": "XM_017009122.3",
"protein_id": "XP_016864611.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 413,
"cds_start": 816,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009122.3"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.816C>G",
"hgvs_p": "p.Asn272Lys",
"transcript": "XM_047416824.1",
"protein_id": "XP_047272780.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 413,
"cds_start": 816,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416824.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.816C>G",
"hgvs_p": "p.Asn272Lys",
"transcript": "XM_011513985.3",
"protein_id": "XP_011512287.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 369,
"cds_start": 816,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513985.3"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.816C>G",
"hgvs_p": "p.Asn272Lys",
"transcript": "XM_017009123.3",
"protein_id": "XP_016864612.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 366,
"cds_start": 816,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009123.3"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.528C>G",
"hgvs_p": "p.Asn176Lys",
"transcript": "XM_017009124.3",
"protein_id": "XP_016864613.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 317,
"cds_start": 528,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009124.3"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.843C>G",
"hgvs_p": "p.Asn281Lys",
"transcript": "XM_047416825.1",
"protein_id": "XP_047272781.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 306,
"cds_start": 843,
"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": "XM_047416825.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.816C>G",
"hgvs_p": "p.Asn272Lys",
"transcript": "XM_011513987.4",
"protein_id": "XP_011512289.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 297,
"cds_start": 816,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
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}
],
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}