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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: 5-96695865-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=96695865&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 96695865,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000675179.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": 1515,
"hgvs_c": "c.168A>C",
"hgvs_p": "p.Gln56His",
"transcript": "NM_001750.7",
"protein_id": "NP_001741.4",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 791,
"cds_start": 168,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 4490,
"mane_select": "ENST00000675179.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": 1515,
"hgvs_c": "c.168A>C",
"hgvs_p": "p.Gln56His",
"transcript": "ENST00000675179.1",
"protein_id": "ENSP00000501872.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 791,
"cds_start": 168,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 4490,
"mane_select": "NM_001750.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.-82A>C",
"hgvs_p": null,
"transcript": "ENST00000341926.7",
"protein_id": "ENSP00000339914.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 708,
"cds_start": -4,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.-82A>C",
"hgvs_p": null,
"transcript": "ENST00000338252.7",
"protein_id": "ENSP00000343421.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 695,
"cds_start": -4,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.168A>C",
"hgvs_p": "p.Gln56His",
"transcript": "ENST00000508830.5",
"protein_id": "ENSP00000425721.1",
"transcript_support_level": 5,
"aa_start": 56,
"aa_end": null,
"aa_length": 791,
"cds_start": 168,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 2539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": 1515,
"hgvs_c": "c.168A>C",
"hgvs_p": "p.Gln56His",
"transcript": "NM_001042441.3",
"protein_id": "NP_001035906.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 772,
"cds_start": 168,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 4433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": 1515,
"hgvs_c": "c.168A>C",
"hgvs_p": "p.Gln56His",
"transcript": "NM_001042442.3",
"protein_id": "NP_001035907.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 769,
"cds_start": 168,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 4424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.168A>C",
"hgvs_p": "p.Gln56His",
"transcript": "ENST00000674984.1",
"protein_id": "ENSP00000501713.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 769,
"cds_start": 168,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 168,
"cdna_end": null,
"cdna_length": 4330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": 1515,
"hgvs_c": "c.123A>C",
"hgvs_p": "p.Gln41His",
"transcript": "NM_001330629.2",
"protein_id": "NP_001317558.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 763,
"cds_start": 123,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 4471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": 1515,
"hgvs_c": "c.168A>C",
"hgvs_p": "p.Gln56His",
"transcript": "NM_001330626.2",
"protein_id": "NP_001317555.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 759,
"cds_start": 168,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 4394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": 1515,
"hgvs_c": "c.123A>C",
"hgvs_p": "p.Gln41His",
"transcript": "NM_001375317.1",
"protein_id": "NP_001362246.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 754,
"cds_start": 123,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 4444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.123A>C",
"hgvs_p": "p.Gln41His",
"transcript": "ENST00000675663.1",
"protein_id": "ENSP00000502449.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 754,
"cds_start": 123,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 4263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": 1515,
"hgvs_c": "c.168A>C",
"hgvs_p": "p.Gln56His",
"transcript": "NM_001042440.5",
"protein_id": "NP_001035905.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 750,
"cds_start": 168,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 4367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.168A>C",
"hgvs_p": "p.Gln56His",
"transcript": "ENST00000395812.6",
"protein_id": "ENSP00000379157.2",
"transcript_support_level": 5,
"aa_start": 56,
"aa_end": null,
"aa_length": 750,
"cds_start": 168,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 4506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": 1515,
"hgvs_c": "c.168A>C",
"hgvs_p": "p.Gln56His",
"transcript": "NM_001330627.2",
"protein_id": "NP_001317556.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 749,
"cds_start": 168,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 4364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.123A>C",
"hgvs_p": "p.Gln41His",
"transcript": "ENST00000508608.6",
"protein_id": "ENSP00000422677.2",
"transcript_support_level": 2,
"aa_start": 41,
"aa_end": null,
"aa_length": 741,
"cds_start": 123,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 235,
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"cdna_length": 2699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": 1515,
"hgvs_c": "c.123A>C",
"hgvs_p": "p.Gln41His",
"transcript": "NM_001330628.2",
"protein_id": "NP_001317557.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 735,
"cds_start": 123,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 4387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.168A>C",
"hgvs_p": "p.Gln56His",
"transcript": "ENST00000511097.6",
"protein_id": "ENSP00000422951.2",
"transcript_support_level": 5,
"aa_start": 56,
"aa_end": null,
"aa_length": 392,
"cds_start": 168,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 1399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.168A>C",
"hgvs_p": "p.Gln56His",
"transcript": "ENST00000421689.6",
"protein_id": "ENSP00000396558.2",
"transcript_support_level": 5,
"aa_start": 56,
"aa_end": null,
"aa_length": 303,
"cds_start": 168,
"cds_end": null,
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"cdna_start": 168,
"cdna_end": null,
"cdna_length": 913,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.114A>C",
"hgvs_p": "p.Gln38His",
"transcript": "ENST00000512620.5",
"protein_id": "ENSP00000426422.1",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 299,
"cds_start": 114,
"cds_end": null,
"cds_length": 902,
"cdna_start": 116,
"cdna_end": null,
"cdna_length": 904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.123A>C",
"hgvs_p": "p.Gln41His",
"transcript": "ENST00000506811.5",
"protein_id": "ENSP00000427092.1",
"transcript_support_level": 5,
"aa_start": 41,
"aa_end": null,
"aa_length": 155,
"cds_start": 123,
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"cds_length": 470,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.123A>C",
"hgvs_p": "p.Gln41His",
"transcript": "ENST00000514845.5",
"protein_id": "ENSP00000422612.1",
"transcript_support_level": 4,
"aa_start": 41,
"aa_end": null,
"aa_length": 149,
"cds_start": 123,
"cds_end": null,
"cds_length": 451,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.123A>C",
"hgvs_p": "p.Gln41His",
"transcript": "ENST00000514055.5",
"protein_id": "ENSP00000421230.1",
"transcript_support_level": 5,
"aa_start": 41,
"aa_end": null,
"aa_length": 148,
"cds_start": 123,
"cds_end": null,
"cds_length": 447,
"cdna_start": 235,
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"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}