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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: 19-1407781-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=1407781&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 1407781,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018959.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.8A>C",
"hgvs_p": "p.Asn3Thr",
"transcript": "NM_018959.4",
"protein_id": "NP_061832.2",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 407,
"cds_start": 8,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000233078.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018959.4"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.8A>C",
"hgvs_p": "p.Asn3Thr",
"transcript": "ENST00000233078.9",
"protein_id": "ENSP00000233078.4",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 407,
"cds_start": 8,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018959.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000233078.9"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.8A>C",
"hgvs_p": "p.Asn3Thr",
"transcript": "ENST00000875652.1",
"protein_id": "ENSP00000545711.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 470,
"cds_start": 8,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875652.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.8A>C",
"hgvs_p": "p.Asn3Thr",
"transcript": "ENST00000918388.1",
"protein_id": "ENSP00000588447.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 469,
"cds_start": 8,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918388.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.8A>C",
"hgvs_p": "p.Asn3Thr",
"transcript": "ENST00000918387.1",
"protein_id": "ENSP00000588446.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 451,
"cds_start": 8,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918387.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.8A>C",
"hgvs_p": "p.Asn3Thr",
"transcript": "ENST00000875651.1",
"protein_id": "ENSP00000545710.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 450,
"cds_start": 8,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875651.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.8A>C",
"hgvs_p": "p.Asn3Thr",
"transcript": "ENST00000918391.1",
"protein_id": "ENSP00000588450.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 450,
"cds_start": 8,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918391.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.8A>C",
"hgvs_p": "p.Asn3Thr",
"transcript": "ENST00000918396.1",
"protein_id": "ENSP00000588455.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 447,
"cds_start": 8,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918396.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.8A>C",
"hgvs_p": "p.Asn3Thr",
"transcript": "ENST00000875646.1",
"protein_id": "ENSP00000545705.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 419,
"cds_start": 8,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875646.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.8A>C",
"hgvs_p": "p.Asn3Thr",
"transcript": "ENST00000875649.1",
"protein_id": "ENSP00000545708.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 418,
"cds_start": 8,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875649.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.8A>C",
"hgvs_p": "p.Asn3Thr",
"transcript": "ENST00000959431.1",
"protein_id": "ENSP00000629490.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 417,
"cds_start": 8,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959431.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.8A>C",
"hgvs_p": "p.Asn3Thr",
"transcript": "ENST00000875645.1",
"protein_id": "ENSP00000545704.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 416,
"cds_start": 8,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875645.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.8A>C",
"hgvs_p": "p.Asn3Thr",
"transcript": "ENST00000918392.1",
"protein_id": "ENSP00000588451.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 407,
"cds_start": 8,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918392.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.8A>C",
"hgvs_p": "p.Asn3Thr",
"transcript": "NM_001352033.2",
"protein_id": "NP_001338962.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 406,
"cds_start": 8,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352033.2"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.8A>C",
"hgvs_p": "p.Asn3Thr",
"transcript": "NM_001352034.2",
"protein_id": "NP_001338963.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 406,
"cds_start": 8,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352034.2"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.8A>C",
"hgvs_p": "p.Asn3Thr",
"transcript": "ENST00000587079.5",
"protein_id": "ENSP00000465433.2",
"transcript_support_level": 5,
"aa_start": 3,
"aa_end": null,
"aa_length": 406,
"cds_start": 8,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587079.5"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.8A>C",
"hgvs_p": "p.Asn3Thr",
"transcript": "ENST00000592522.5",
"protein_id": "ENSP00000467680.2",
"transcript_support_level": 5,
"aa_start": 3,
"aa_end": null,
"aa_length": 406,
"cds_start": 8,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592522.5"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.8A>C",
"hgvs_p": "p.Asn3Thr",
"transcript": "ENST00000875641.1",
"protein_id": "ENSP00000545700.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 405,
"cds_start": 8,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875641.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.8A>C",
"hgvs_p": "p.Asn3Thr",
"transcript": "ENST00000875643.1",
"protein_id": "ENSP00000545702.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 404,
"cds_start": 8,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875643.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.8A>C",
"hgvs_p": "p.Asn3Thr",
"transcript": "ENST00000875642.1",
"protein_id": "ENSP00000545701.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 403,
"cds_start": 8,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875642.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.8A>C",
"hgvs_p": "p.Asn3Thr",
"transcript": "ENST00000875644.1",
"protein_id": "ENSP00000545703.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 403,
"cds_start": 8,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875644.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.8A>C",
"hgvs_p": "p.Asn3Thr",
"transcript": "ENST00000875640.1",
"protein_id": "ENSP00000545699.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 402,
"cds_start": 8,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.142,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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_018959.4",
"gene_symbol": "DAZAP1",
"hgnc_id": 2683,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.8A>C",
"hgvs_p": "p.Asn3Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}