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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: 10-50810003-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=50810003&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 50810003,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001198819.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A1CF",
"gene_hgnc_id": 24086,
"hgvs_c": "c.1500T>G",
"hgvs_p": "p.Asp500Glu",
"transcript": "NM_014576.4",
"protein_id": "NP_055391.2",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 586,
"cds_start": 1500,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373997.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014576.4"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A1CF",
"gene_hgnc_id": 24086,
"hgvs_c": "c.1500T>G",
"hgvs_p": "p.Asp500Glu",
"transcript": "ENST00000373997.8",
"protein_id": "ENSP00000363109.3",
"transcript_support_level": 1,
"aa_start": 500,
"aa_end": null,
"aa_length": 586,
"cds_start": 1500,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014576.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373997.8"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A1CF",
"gene_hgnc_id": 24086,
"hgvs_c": "c.1524T>G",
"hgvs_p": "p.Asp508Glu",
"transcript": "ENST00000373993.6",
"protein_id": "ENSP00000363105.1",
"transcript_support_level": 1,
"aa_start": 508,
"aa_end": null,
"aa_length": 594,
"cds_start": 1524,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373993.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A1CF",
"gene_hgnc_id": 24086,
"hgvs_c": "c.1578T>G",
"hgvs_p": "p.Asp526Glu",
"transcript": "ENST00000855032.1",
"protein_id": "ENSP00000525091.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 612,
"cds_start": 1578,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855032.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A1CF",
"gene_hgnc_id": 24086,
"hgvs_c": "c.1548T>G",
"hgvs_p": "p.Asp516Glu",
"transcript": "NM_001198819.2",
"protein_id": "NP_001185748.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 602,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198819.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A1CF",
"gene_hgnc_id": 24086,
"hgvs_c": "c.1548T>G",
"hgvs_p": "p.Asp516Glu",
"transcript": "ENST00000395489.7",
"protein_id": "ENSP00000378868.3",
"transcript_support_level": 2,
"aa_start": 516,
"aa_end": null,
"aa_length": 602,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395489.7"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A1CF",
"gene_hgnc_id": 24086,
"hgvs_c": "c.1524T>G",
"hgvs_p": "p.Asp508Glu",
"transcript": "NM_001198820.2",
"protein_id": "NP_001185749.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 594,
"cds_start": 1524,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198820.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A1CF",
"gene_hgnc_id": 24086,
"hgvs_c": "c.1524T>G",
"hgvs_p": "p.Asp508Glu",
"transcript": "NM_001370131.1",
"protein_id": "NP_001357060.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 594,
"cds_start": 1524,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370131.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A1CF",
"gene_hgnc_id": 24086,
"hgvs_c": "c.1524T>G",
"hgvs_p": "p.Asp508Glu",
"transcript": "NM_138932.3",
"protein_id": "NP_620310.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 594,
"cds_start": 1524,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138932.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A1CF",
"gene_hgnc_id": 24086,
"hgvs_c": "c.1524T>G",
"hgvs_p": "p.Asp508Glu",
"transcript": "NM_138933.3",
"protein_id": "NP_620311.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 594,
"cds_start": 1524,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138933.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A1CF",
"gene_hgnc_id": 24086,
"hgvs_c": "c.1524T>G",
"hgvs_p": "p.Asp508Glu",
"transcript": "ENST00000373995.7",
"protein_id": "ENSP00000363107.3",
"transcript_support_level": 2,
"aa_start": 508,
"aa_end": null,
"aa_length": 594,
"cds_start": 1524,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373995.7"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A1CF",
"gene_hgnc_id": 24086,
"hgvs_c": "c.1524T>G",
"hgvs_p": "p.Asp508Glu",
"transcript": "ENST00000395495.6",
"protein_id": "ENSP00000378873.2",
"transcript_support_level": 5,
"aa_start": 508,
"aa_end": null,
"aa_length": 594,
"cds_start": 1524,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395495.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A1CF",
"gene_hgnc_id": 24086,
"hgvs_c": "c.1524T>G",
"hgvs_p": "p.Asp508Glu",
"transcript": "ENST00000855021.1",
"protein_id": "ENSP00000525080.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 594,
"cds_start": 1524,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855021.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A1CF",
"gene_hgnc_id": 24086,
"hgvs_c": "c.1524T>G",
"hgvs_p": "p.Asp508Glu",
"transcript": "ENST00000855025.1",
"protein_id": "ENSP00000525084.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 594,
"cds_start": 1524,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855025.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A1CF",
"gene_hgnc_id": 24086,
"hgvs_c": "c.1524T>G",
"hgvs_p": "p.Asp508Glu",
"transcript": "ENST00000855027.1",
"protein_id": "ENSP00000525086.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 594,
"cds_start": 1524,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855027.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A1CF",
"gene_hgnc_id": 24086,
"hgvs_c": "c.1524T>G",
"hgvs_p": "p.Asp508Glu",
"transcript": "ENST00000855029.1",
"protein_id": "ENSP00000525088.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 594,
"cds_start": 1524,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855029.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A1CF",
"gene_hgnc_id": 24086,
"hgvs_c": "c.1524T>G",
"hgvs_p": "p.Asp508Glu",
"transcript": "ENST00000855031.1",
"protein_id": "ENSP00000525090.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 594,
"cds_start": 1524,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855031.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A1CF",
"gene_hgnc_id": 24086,
"hgvs_c": "c.1524T>G",
"hgvs_p": "p.Asp508Glu",
"transcript": "ENST00000855033.1",
"protein_id": "ENSP00000525092.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 594,
"cds_start": 1524,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855033.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A1CF",
"gene_hgnc_id": 24086,
"hgvs_c": "c.1524T>G",
"hgvs_p": "p.Asp508Glu",
"transcript": "ENST00000855036.1",
"protein_id": "ENSP00000525095.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 594,
"cds_start": 1524,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855036.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A1CF",
"gene_hgnc_id": 24086,
"hgvs_c": "c.1524T>G",
"hgvs_p": "p.Asp508Glu",
"transcript": "ENST00000855037.1",
"protein_id": "ENSP00000525096.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 594,
"cds_start": 1524,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855037.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A1CF",
"gene_hgnc_id": 24086,
"hgvs_c": "c.1524T>G",
"hgvs_p": "p.Asp508Glu",
"transcript": "ENST00000855038.1",
"protein_id": "ENSP00000525097.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 594,
"cds_start": 1524,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855038.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A1CF",
"gene_hgnc_id": 24086,
"hgvs_c": "c.1524T>G",
"hgvs_p": "p.Asp508Glu",
"transcript": "ENST00000855045.1",
"protein_id": "ENSP00000525104.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 594,
"cds_start": 1524,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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{
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],
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],
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"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
}