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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: 13-60015973-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=60015973&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 60015973,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001042517.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.711A>T",
"hgvs_p": "p.Lys237Asn",
"transcript": "NM_001042517.2",
"protein_id": "NP_001035982.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 1193,
"cds_start": 711,
"cds_end": null,
"cds_length": 3582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000400324.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042517.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.711A>T",
"hgvs_p": "p.Lys237Asn",
"transcript": "ENST00000400324.9",
"protein_id": "ENSP00000383178.3",
"transcript_support_level": 1,
"aa_start": 237,
"aa_end": null,
"aa_length": 1193,
"cds_start": 711,
"cds_end": null,
"cds_length": 3582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001042517.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400324.9"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.678A>T",
"hgvs_p": "p.Lys226Asn",
"transcript": "ENST00000377908.6",
"protein_id": "ENSP00000367141.2",
"transcript_support_level": 1,
"aa_start": 226,
"aa_end": null,
"aa_length": 1182,
"cds_start": 678,
"cds_end": null,
"cds_length": 3549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377908.6"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.573A>T",
"hgvs_p": "p.Lys191Asn",
"transcript": "ENST00000400320.5",
"protein_id": "ENSP00000383174.1",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 1147,
"cds_start": 573,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400320.5"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.501A>T",
"hgvs_p": "p.Lys167Asn",
"transcript": "ENST00000400319.5",
"protein_id": "ENSP00000383173.1",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 1123,
"cds_start": 501,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400319.5"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.711A>T",
"hgvs_p": "p.Lys237Asn",
"transcript": "ENST00000267215.8",
"protein_id": "ENSP00000267215.4",
"transcript_support_level": 1,
"aa_start": 237,
"aa_end": null,
"aa_length": 1112,
"cds_start": 711,
"cds_end": null,
"cds_length": 3339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267215.8"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.678A>T",
"hgvs_p": "p.Lys226Asn",
"transcript": "NM_001258366.2",
"protein_id": "NP_001245295.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 1182,
"cds_start": 678,
"cds_end": null,
"cds_length": 3549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258366.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.573A>T",
"hgvs_p": "p.Lys191Asn",
"transcript": "NM_001258367.2",
"protein_id": "NP_001245296.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 1147,
"cds_start": 573,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258367.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.501A>T",
"hgvs_p": "p.Lys167Asn",
"transcript": "NM_001258368.2",
"protein_id": "NP_001245297.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1123,
"cds_start": 501,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258368.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.711A>T",
"hgvs_p": "p.Lys237Asn",
"transcript": "NM_001258369.2",
"protein_id": "NP_001245298.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 1112,
"cds_start": 711,
"cds_end": null,
"cds_length": 3339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258369.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.711A>T",
"hgvs_p": "p.Lys237Asn",
"transcript": "XM_024449422.1",
"protein_id": "XP_024305190.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 1143,
"cds_start": 711,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449422.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.711A>T",
"hgvs_p": "p.Lys237Asn",
"transcript": "XM_011535258.3",
"protein_id": "XP_011533560.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 1136,
"cds_start": 711,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535258.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.711A>T",
"hgvs_p": "p.Lys237Asn",
"transcript": "XM_011535263.3",
"protein_id": "XP_011533565.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 737,
"cds_start": 711,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535263.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.678A>T",
"hgvs_p": "p.Lys226Asn",
"transcript": "XM_047430701.1",
"protein_id": "XP_047286657.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 726,
"cds_start": 678,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430701.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.711A>T",
"hgvs_p": "p.Lys237Asn",
"transcript": "XM_011535265.3",
"protein_id": "XP_011533567.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 713,
"cds_start": 711,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535265.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.711A>T",
"hgvs_p": "p.Lys237Asn",
"transcript": "XM_017020789.1",
"protein_id": "XP_016876278.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 706,
"cds_start": 711,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020789.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "n.873A>T",
"hgvs_p": null,
"transcript": "XR_001749694.2",
"protein_id": null,
"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": "pseudogene",
"feature": "XR_001749694.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "n.873A>T",
"hgvs_p": null,
"transcript": "XR_002957477.1",
"protein_id": null,
"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": "pseudogene",
"feature": "XR_002957477.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "n.873A>T",
"hgvs_p": null,
"transcript": "XR_002957478.1",
"protein_id": null,
"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": "pseudogene",
"feature": "XR_002957478.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "n.873A>T",
"hgvs_p": null,
"transcript": "XR_002957480.1",
"protein_id": null,
"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": "pseudogene",
"feature": "XR_002957480.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "n.873A>T",
"hgvs_p": null,
"transcript": "XR_941672.1",
"protein_id": null,
"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": "pseudogene",
"feature": "XR_941672.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DIAPH3-AS1",
"gene_hgnc_id": 39915,
"hgvs_c": "n.114+2602T>A",
"hgvs_p": null,
"transcript": "ENST00000422052.6",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000422052.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
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{
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"BS2"
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{
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}