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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: 2-214767506-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=214767506&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 214767506,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000465.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.1544C>A",
"hgvs_p": "p.Ser515Tyr",
"transcript": "NM_000465.4",
"protein_id": "NP_000456.2",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 777,
"cds_start": 1544,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000260947.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000465.4"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.1544C>A",
"hgvs_p": "p.Ser515Tyr",
"transcript": "ENST00000260947.9",
"protein_id": "ENSP00000260947.4",
"transcript_support_level": 1,
"aa_start": 515,
"aa_end": null,
"aa_length": 777,
"cds_start": 1544,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000465.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260947.9"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"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": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.1487C>A",
"hgvs_p": "p.Ser496Tyr",
"transcript": "ENST00000617164.5",
"protein_id": "ENSP00000480470.1",
"transcript_support_level": 1,
"aa_start": 496,
"aa_end": null,
"aa_length": 758,
"cds_start": 1487,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617164.5"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.1136C>A",
"hgvs_p": "p.Ser379Tyr",
"transcript": "ENST00000613706.5",
"protein_id": "ENSP00000484976.2",
"transcript_support_level": 1,
"aa_start": 379,
"aa_end": null,
"aa_length": 641,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613706.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.159-14951C>A",
"hgvs_p": null,
"transcript": "ENST00000613374.5",
"protein_id": "ENSP00000484464.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 307,
"cds_start": null,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613374.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.364+24791C>A",
"hgvs_p": null,
"transcript": "ENST00000619009.5",
"protein_id": "ENSP00000482293.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 264,
"cds_start": null,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619009.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "n.159-36998C>A",
"hgvs_p": null,
"transcript": "ENST00000613192.2",
"protein_id": "ENSP00000483275.2",
"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": "ENST00000613192.2"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.1643C>A",
"hgvs_p": "p.Ser548Tyr",
"transcript": "ENST00000915566.1",
"protein_id": "ENSP00000585625.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 810,
"cds_start": 1643,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915566.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.1547C>A",
"hgvs_p": "p.Ser516Tyr",
"transcript": "ENST00000887324.1",
"protein_id": "ENSP00000557383.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 778,
"cds_start": 1547,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887324.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.1544C>A",
"hgvs_p": "p.Ser515Tyr",
"transcript": "ENST00000915565.1",
"protein_id": "ENSP00000585624.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 767,
"cds_start": 1544,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915565.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"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": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.1487C>A",
"hgvs_p": "p.Ser496Tyr",
"transcript": "NM_001282543.2",
"protein_id": "NP_001269472.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 758,
"cds_start": 1487,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282543.2"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"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": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.1334C>A",
"hgvs_p": "p.Ser445Tyr",
"transcript": "ENST00000915563.1",
"protein_id": "ENSP00000585622.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 707,
"cds_start": 1334,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915563.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.701C>A",
"hgvs_p": "p.Ser234Tyr",
"transcript": "ENST00000915564.1",
"protein_id": "ENSP00000585623.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 496,
"cds_start": 701,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915564.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.1643C>A",
"hgvs_p": "p.Ser548Tyr",
"transcript": "XM_017004613.2",
"protein_id": "XP_016860102.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 810,
"cds_start": 1643,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004613.2"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.1643C>A",
"hgvs_p": "p.Ser548Tyr",
"transcript": "XM_017004614.2",
"protein_id": "XP_016860103.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 675,
"cds_start": 1643,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004614.2"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.1544C>A",
"hgvs_p": "p.Ser515Tyr",
"transcript": "XM_047445350.1",
"protein_id": "XP_047301306.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 642,
"cds_start": 1544,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445350.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.216-14951C>A",
"hgvs_p": null,
"transcript": "NM_001282545.2",
"protein_id": "NP_001269474.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 326,
"cds_start": null,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282545.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.216-14951C>A",
"hgvs_p": null,
"transcript": "ENST00000421162.2",
"protein_id": "ENSP00000392245.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 326,
"cds_start": null,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421162.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.159-14951C>A",
"hgvs_p": null,
"transcript": "NM_001282548.2",
"protein_id": "NP_001269477.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 307,
"cds_start": null,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282548.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.364+24791C>A",
"hgvs_p": null,
"transcript": "NM_001282549.2",
"protein_id": "NP_001269478.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 264,
"cds_start": null,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282549.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "n.*1164C>A",
"hgvs_p": null,
"transcript": "ENST00000455743.5",
"protein_id": "ENSP00000412186.1",
"transcript_support_level": 5,
"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": "ENST00000455743.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "n.*210C>A",
"hgvs_p": null,
"transcript": "ENST00000620057.4",
"protein_id": "ENSP00000481988.1",
"transcript_support_level": null,
"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": "ENST00000620057.4"
},
{
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],
"gene_symbol": "BARD1",
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"dbsnp": "rs746878509",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8421e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5594376921653748,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.372,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1054,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.114,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AD",
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],
"clinvar_disease": "Familial cancer of breast,Hereditary cancer-predisposing syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Familial cancer of breast|Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}