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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: 17-43074352-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=43074352&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 43074352,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_007294.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.4654T>A",
"hgvs_p": "p.Tyr1552Asn",
"transcript": "NM_007294.4",
"protein_id": "NP_009225.1",
"transcript_support_level": null,
"aa_start": 1552,
"aa_end": null,
"aa_length": 1863,
"cds_start": 4654,
"cds_end": null,
"cds_length": 5592,
"cdna_start": 4767,
"cdna_end": null,
"cdna_length": 7088,
"mane_select": "ENST00000357654.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.4654T>A",
"hgvs_p": "p.Tyr1552Asn",
"transcript": "ENST00000357654.9",
"protein_id": "ENSP00000350283.3",
"transcript_support_level": 1,
"aa_start": 1552,
"aa_end": null,
"aa_length": 1863,
"cds_start": 4654,
"cds_end": null,
"cds_length": 5592,
"cdna_start": 4767,
"cdna_end": null,
"cdna_length": 7088,
"mane_select": "NM_007294.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.4717T>A",
"hgvs_p": "p.Tyr1573Asn",
"transcript": "ENST00000471181.7",
"protein_id": "ENSP00000418960.2",
"transcript_support_level": 1,
"aa_start": 1573,
"aa_end": null,
"aa_length": 1884,
"cds_start": 4717,
"cds_end": null,
"cds_length": 5655,
"cdna_start": 4949,
"cdna_end": null,
"cdna_length": 7270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.4654T>A",
"hgvs_p": "p.Tyr1552Asn",
"transcript": "ENST00000470026.6",
"protein_id": "ENSP00000419274.2",
"transcript_support_level": 1,
"aa_start": 1552,
"aa_end": null,
"aa_length": 1863,
"cds_start": 4654,
"cds_end": null,
"cds_length": 5592,
"cdna_start": 4835,
"cdna_end": null,
"cdna_length": 7147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.4654T>A",
"hgvs_p": "p.Tyr1552Asn",
"transcript": "ENST00000494123.6",
"protein_id": "ENSP00000419103.2",
"transcript_support_level": 1,
"aa_start": 1552,
"aa_end": null,
"aa_length": 1863,
"cds_start": 4654,
"cds_end": null,
"cds_length": 5592,
"cdna_start": 4847,
"cdna_end": null,
"cdna_length": 7168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.4654T>A",
"hgvs_p": "p.Tyr1552Asn",
"transcript": "ENST00000618469.2",
"protein_id": "ENSP00000478114.2",
"transcript_support_level": 1,
"aa_start": 1552,
"aa_end": null,
"aa_length": 1863,
"cds_start": 4654,
"cds_end": null,
"cds_length": 5592,
"cdna_start": 5301,
"cdna_end": null,
"cdna_length": 7613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.4576T>A",
"hgvs_p": "p.Tyr1526Asn",
"transcript": "ENST00000477152.6",
"protein_id": "ENSP00000419988.2",
"transcript_support_level": 1,
"aa_start": 1526,
"aa_end": null,
"aa_length": 1837,
"cds_start": 4576,
"cds_end": null,
"cds_length": 5514,
"cdna_start": 4689,
"cdna_end": null,
"cdna_length": 7010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.3766T>A",
"hgvs_p": "p.Tyr1256Asn",
"transcript": "ENST00000497488.2",
"protein_id": "ENSP00000418986.2",
"transcript_support_level": 1,
"aa_start": 1256,
"aa_end": null,
"aa_length": 1567,
"cds_start": 3766,
"cds_end": null,
"cds_length": 4704,
"cdna_start": 4014,
"cdna_end": null,
"cdna_length": 6335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.1342T>A",
"hgvs_p": "p.Tyr448Asn",
"transcript": "ENST00000478531.6",
"protein_id": "ENSP00000420412.2",
"transcript_support_level": 1,
"aa_start": 448,
"aa_end": null,
"aa_length": 759,
"cds_start": 1342,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1444,
"cdna_end": null,
"cdna_length": 3765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.1342T>A",
"hgvs_p": "p.Tyr448Asn",
"transcript": "ENST00000468300.5",
"protein_id": "ENSP00000417148.1",
"transcript_support_level": 1,
"aa_start": 448,
"aa_end": null,
"aa_length": 699,
"cds_start": 1342,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 3273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.127T>A",
"hgvs_p": "p.Tyr43Asn",
"transcript": "ENST00000591534.5",
"protein_id": "ENSP00000467329.1",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 354,
"cds_start": 127,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 229,
"cdna_end": null,
"cdna_length": 1282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "n.*4437T>A",
"hgvs_p": null,
"transcript": "ENST00000461221.5",
"protein_id": "ENSP00000418548.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "n.*4437T>A",
"hgvs_p": null,
"transcript": "ENST00000461221.5",
"protein_id": "ENSP00000418548.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.5-10401T>A",
"hgvs_p": null,
"transcript": "ENST00000586385.5",
"protein_id": "ENSP00000465818.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 173,
"cds_start": -4,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.-98-24162T>A",
"hgvs_p": null,
"transcript": "ENST00000591849.5",
"protein_id": "ENSP00000465347.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 96,
"cds_start": -4,
"cds_end": null,
"cds_length": 291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.4720T>A",
"hgvs_p": "p.Tyr1574Asn",
"transcript": "NM_001407581.1",
"protein_id": "NP_001394510.1",
"transcript_support_level": null,
"aa_start": 1574,
"aa_end": null,
"aa_length": 1885,
"cds_start": 4720,
"cds_end": null,
"cds_length": 5658,
"cdna_start": 4833,
"cdna_end": null,
"cdna_length": 7154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.4720T>A",
"hgvs_p": "p.Tyr1574Asn",
"transcript": "NM_001407582.1",
"protein_id": "NP_001394511.1",
"transcript_support_level": null,
"aa_start": 1574,
"aa_end": null,
"aa_length": 1885,
"cds_start": 4720,
"cds_end": null,
"cds_length": 5658,
"cdna_start": 4922,
"cdna_end": null,
"cdna_length": 7243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.4720T>A",
"hgvs_p": "p.Tyr1574Asn",
"transcript": "ENST00000644379.2",
"protein_id": "ENSP00000496570.2",
"transcript_support_level": null,
"aa_start": 1574,
"aa_end": null,
"aa_length": 1885,
"cds_start": 4720,
"cds_end": null,
"cds_length": 5658,
"cdna_start": 4833,
"cdna_end": null,
"cdna_length": 6363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.4717T>A",
"hgvs_p": "p.Tyr1573Asn",
"transcript": "NM_001407583.1",
"protein_id": "NP_001394512.1",
"transcript_support_level": null,
"aa_start": 1573,
"aa_end": null,
"aa_length": 1884,
"cds_start": 4717,
"cds_end": null,
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"cdna_start": 5364,
"cdna_end": null,
"cdna_length": 7685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.4717T>A",
"hgvs_p": "p.Tyr1573Asn",
"transcript": "NM_001407585.1",
"protein_id": "NP_001394514.1",
"transcript_support_level": null,
"aa_start": 1573,
"aa_end": null,
"aa_length": 1884,
"cds_start": 4717,
"cds_end": null,
"cds_length": 5655,
"cdna_start": 4817,
"cdna_end": null,
"cdna_length": 7138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.4717T>A",
"hgvs_p": "p.Tyr1573Asn",
"transcript": "NM_001407587.1",
"protein_id": "NP_001394516.1",
"transcript_support_level": null,
"aa_start": 1573,
"aa_end": null,
"aa_length": 1884,
"cds_start": 4717,
"cds_end": null,
"cds_length": 5655,
"cdna_start": 4824,
"cdna_end": null,
"cdna_length": 7145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.4717T>A",
"hgvs_p": "p.Tyr1573Asn",
"transcript": "NM_007300.4",
"protein_id": "NP_009231.2",
"transcript_support_level": null,
"aa_start": 1573,
"aa_end": null,
"aa_length": 1884,
"cds_start": 4717,
"cds_end": null,
"cds_length": 5655,
"cdna_start": 4830,
"cdna_end": null,
"cdna_length": 7151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
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"mane_plus": null,
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"feature": null
}
],
"gene_symbol": "BRCA1",
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"dbsnp": "rs1265352633",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22958290576934814,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.52,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0889,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.442,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_007294.4",
"gene_symbol": "BRCA1",
"hgnc_id": 1100,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.4654T>A",
"hgvs_p": "p.Tyr1552Asn"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}