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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: 20-36526837-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=36526837&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 36526837,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001365621.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP4",
"gene_hgnc_id": 24476,
"hgvs_c": "c.2785G>T",
"hgvs_p": "p.Val929Phe",
"transcript": "NM_001365621.2",
"protein_id": "NP_001352550.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 992,
"cds_start": 2785,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000339266.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365621.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP4",
"gene_hgnc_id": 24476,
"hgvs_c": "c.2785G>T",
"hgvs_p": "p.Val929Phe",
"transcript": "ENST00000339266.10",
"protein_id": "ENSP00000341633.5",
"transcript_support_level": 5,
"aa_start": 929,
"aa_end": null,
"aa_length": 992,
"cds_start": 2785,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001365621.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339266.10"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP4",
"gene_hgnc_id": 24476,
"hgvs_c": "c.2776G>T",
"hgvs_p": "p.Val926Phe",
"transcript": "ENST00000373913.7",
"protein_id": "ENSP00000363023.3",
"transcript_support_level": 1,
"aa_start": 926,
"aa_end": null,
"aa_length": 989,
"cds_start": 2776,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373913.7"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP4",
"gene_hgnc_id": 24476,
"hgvs_c": "c.1168G>T",
"hgvs_p": "p.Val390Phe",
"transcript": "ENST00000340491.8",
"protein_id": "ENSP00000345700.4",
"transcript_support_level": 1,
"aa_start": 390,
"aa_end": null,
"aa_length": 453,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340491.8"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DLGAP4-AS1",
"gene_hgnc_id": 51223,
"hgvs_c": "n.468-15805C>A",
"hgvs_p": null,
"transcript": "ENST00000439595.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000439595.5"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP4",
"gene_hgnc_id": 24476,
"hgvs_c": "c.2785G>T",
"hgvs_p": "p.Val929Phe",
"transcript": "ENST00000373907.6",
"protein_id": "ENSP00000363014.2",
"transcript_support_level": 5,
"aa_start": 929,
"aa_end": null,
"aa_length": 992,
"cds_start": 2785,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373907.6"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP4",
"gene_hgnc_id": 24476,
"hgvs_c": "c.2785G>T",
"hgvs_p": "p.Val929Phe",
"transcript": "ENST00000917065.1",
"protein_id": "ENSP00000587124.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 992,
"cds_start": 2785,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917065.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP4",
"gene_hgnc_id": 24476,
"hgvs_c": "c.2785G>T",
"hgvs_p": "p.Val929Phe",
"transcript": "ENST00000917066.1",
"protein_id": "ENSP00000587125.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 992,
"cds_start": 2785,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917066.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP4",
"gene_hgnc_id": 24476,
"hgvs_c": "c.2776G>T",
"hgvs_p": "p.Val926Phe",
"transcript": "NM_014902.6",
"protein_id": "NP_055717.2",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 989,
"cds_start": 2776,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014902.6"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP4",
"gene_hgnc_id": 24476,
"hgvs_c": "c.2776G>T",
"hgvs_p": "p.Val926Phe",
"transcript": "ENST00000953306.1",
"protein_id": "ENSP00000623365.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 989,
"cds_start": 2776,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953306.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP4",
"gene_hgnc_id": 24476,
"hgvs_c": "c.1168G>T",
"hgvs_p": "p.Val390Phe",
"transcript": "NM_183006.4",
"protein_id": "NP_892118.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 453,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183006.4"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP4",
"gene_hgnc_id": 24476,
"hgvs_c": "c.1159G>T",
"hgvs_p": "p.Val387Phe",
"transcript": "NM_001388278.1",
"protein_id": "NP_001375207.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 450,
"cds_start": 1159,
"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": "NM_001388278.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP4",
"gene_hgnc_id": 24476,
"hgvs_c": "c.703G>T",
"hgvs_p": "p.Val235Phe",
"transcript": "NM_001388277.1",
"protein_id": "NP_001375206.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 298,
"cds_start": 703,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388277.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP4",
"gene_hgnc_id": 24476,
"hgvs_c": "c.664G>T",
"hgvs_p": "p.Val222Phe",
"transcript": "NM_001042486.4",
"protein_id": "NP_001035951.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 285,
"cds_start": 664,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042486.4"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP4",
"gene_hgnc_id": 24476,
"hgvs_c": "c.664G>T",
"hgvs_p": "p.Val222Phe",
"transcript": "NM_001388257.1",
"protein_id": "NP_001375186.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 285,
"cds_start": 664,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388257.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP4",
"gene_hgnc_id": 24476,
"hgvs_c": "c.664G>T",
"hgvs_p": "p.Val222Phe",
"transcript": "NM_001388260.1",
"protein_id": "NP_001375189.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 285,
"cds_start": 664,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388260.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP4",
"gene_hgnc_id": 24476,
"hgvs_c": "c.664G>T",
"hgvs_p": "p.Val222Phe",
"transcript": "NM_001388262.1",
"protein_id": "NP_001375191.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 285,
"cds_start": 664,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388262.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP4",
"gene_hgnc_id": 24476,
"hgvs_c": "c.664G>T",
"hgvs_p": "p.Val222Phe",
"transcript": "NM_001388265.1",
"protein_id": "NP_001375194.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 285,
"cds_start": 664,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388265.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP4",
"gene_hgnc_id": 24476,
"hgvs_c": "c.664G>T",
"hgvs_p": "p.Val222Phe",
"transcript": "NM_001388268.1",
"protein_id": "NP_001375197.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 285,
"cds_start": 664,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388268.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP4",
"gene_hgnc_id": 24476,
"hgvs_c": "c.664G>T",
"hgvs_p": "p.Val222Phe",
"transcript": "NM_001388271.1",
"protein_id": "NP_001375200.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 285,
"cds_start": 664,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388271.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP4",
"gene_hgnc_id": 24476,
"hgvs_c": "c.664G>T",
"hgvs_p": "p.Val222Phe",
"transcript": "NM_001388274.1",
"protein_id": "NP_001375203.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 285,
"cds_start": 664,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388274.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP4",
"gene_hgnc_id": 24476,
"hgvs_c": "c.664G>T",
"hgvs_p": "p.Val222Phe",
"transcript": "NM_001388275.1",
"protein_id": "NP_001375204.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 285,
"cds_start": 664,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
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"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001365621.2",
"gene_symbol": "DLGAP4",
"hgnc_id": 24476,
"effects": [
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],
"inheritance_mode": "AD",
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{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "ENST00000439595.5",
"gene_symbol": "DLGAP4-AS1",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "not specified",
"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
}