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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: 1-19378549-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=19378549&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 19378549,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001282162.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "NM_004930.5",
"protein_id": "NP_004921.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 272,
"cds_start": 320,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264202.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004930.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "ENST00000264202.8",
"protein_id": "ENSP00000264202.7",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 272,
"cds_start": 320,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004930.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264202.8"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "ENST00000375144.6",
"protein_id": "ENSP00000364286.2",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 244,
"cds_start": 320,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375144.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.Tyr136Cys",
"transcript": "NM_001282162.2",
"protein_id": "NP_001269091.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 301,
"cds_start": 407,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282162.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.Tyr136Cys",
"transcript": "ENST00000433834.5",
"protein_id": "ENSP00000401010.1",
"transcript_support_level": 2,
"aa_start": 136,
"aa_end": null,
"aa_length": 301,
"cds_start": 407,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433834.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "ENST00000915220.1",
"protein_id": "ENSP00000585279.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 296,
"cds_start": 320,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915220.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.371A>G",
"hgvs_p": "p.Tyr124Cys",
"transcript": "ENST00000898919.1",
"protein_id": "ENSP00000568978.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 289,
"cds_start": 371,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898919.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.365A>G",
"hgvs_p": "p.Tyr122Cys",
"transcript": "ENST00000915222.1",
"protein_id": "ENSP00000585281.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 287,
"cds_start": 365,
"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": "ENST00000915222.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.365A>G",
"hgvs_p": "p.Tyr122Cys",
"transcript": "ENST00000943721.1",
"protein_id": "ENSP00000613780.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 287,
"cds_start": 365,
"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": "ENST00000943721.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "NM_001206540.3",
"protein_id": "NP_001193469.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 277,
"cds_start": 320,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206540.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "ENST00000375142.6",
"protein_id": "ENSP00000364284.1",
"transcript_support_level": 5,
"aa_start": 107,
"aa_end": null,
"aa_length": 277,
"cds_start": 320,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375142.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "ENST00000674432.1",
"protein_id": "ENSP00000501528.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 277,
"cds_start": 320,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674432.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "ENST00000915219.1",
"protein_id": "ENSP00000585278.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 271,
"cds_start": 320,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915219.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "ENST00000898917.1",
"protein_id": "ENSP00000568976.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 268,
"cds_start": 320,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898917.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.398A>G",
"hgvs_p": "p.Tyr133Cys",
"transcript": "NM_001206541.3",
"protein_id": "NP_001193470.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 260,
"cds_start": 398,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206541.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.398A>G",
"hgvs_p": "p.Tyr133Cys",
"transcript": "ENST00000264203.7",
"protein_id": "ENSP00000264203.3",
"transcript_support_level": 2,
"aa_start": 133,
"aa_end": null,
"aa_length": 260,
"cds_start": 398,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264203.7"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "ENST00000898921.1",
"protein_id": "ENSP00000568980.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 256,
"cds_start": 320,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898921.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "ENST00000943720.1",
"protein_id": "ENSP00000613779.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 253,
"cds_start": 320,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943720.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "ENST00000898918.1",
"protein_id": "ENSP00000568977.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 233,
"cds_start": 320,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898918.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "ENST00000915221.1",
"protein_id": "ENSP00000585280.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 138,
"cds_start": 320,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915221.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "NM_001313932.2",
"protein_id": "NP_001300861.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 112,
"cds_start": 320,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001313932.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.164A>G",
"hgvs_p": "p.Tyr55Cys",
"transcript": "ENST00000674278.1",
"protein_id": "ENSP00000501392.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 58,
"cds_start": 164,
"cds_end": null,
"cds_length": 177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674278.1"
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}