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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: 1-147242777-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=147242777&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 147242777,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000369258.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Arg25Gln",
"transcript": "NM_004284.6",
"protein_id": "NP_004275.4",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 897,
"cds_start": 74,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 94,
"cdna_end": null,
"cdna_length": 2967,
"mane_select": "ENST00000369258.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Arg25Gln",
"transcript": "ENST00000369258.8",
"protein_id": "ENSP00000358262.4",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 897,
"cds_start": 74,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 94,
"cdna_end": null,
"cdna_length": 2967,
"mane_select": "NM_004284.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Arg25Gln",
"transcript": "ENST00000369259.4",
"protein_id": "ENSP00000358263.3",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 693,
"cds_start": 74,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 94,
"cdna_end": null,
"cdna_length": 2358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "n.74G>A",
"hgvs_p": null,
"transcript": "ENST00000467213.5",
"protein_id": "ENSP00000477985.1",
"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": 2782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Arg25Gln",
"transcript": "ENST00000650714.1",
"protein_id": "ENSP00000499169.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 792,
"cds_start": 74,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 80,
"cdna_end": null,
"cdna_length": 2461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Arg25Gln",
"transcript": "NM_001348454.2",
"protein_id": "NP_001335383.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 745,
"cds_start": 74,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 94,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Arg25Gln",
"transcript": "ENST00000361293.10",
"protein_id": "ENSP00000355100.6",
"transcript_support_level": 2,
"aa_start": 25,
"aa_end": null,
"aa_length": 745,
"cds_start": 74,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 97,
"cdna_end": null,
"cdna_length": 2505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Arg25Gln",
"transcript": "NM_001256338.3",
"protein_id": "NP_001243267.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 693,
"cds_start": 74,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 94,
"cdna_end": null,
"cdna_length": 2355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Arg25Gln",
"transcript": "ENST00000652587.1",
"protein_id": "ENSP00000498899.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 516,
"cds_start": 74,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 124,
"cdna_end": null,
"cdna_length": 1822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Arg25Gln",
"transcript": "XM_047435001.1",
"protein_id": "XP_047290957.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 540,
"cds_start": 74,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 94,
"cdna_end": null,
"cdna_length": 1708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "n.74G>A",
"hgvs_p": null,
"transcript": "ENST00000488864.5",
"protein_id": "ENSP00000482764.1",
"transcript_support_level": 2,
"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": 2415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "n.32G>A",
"hgvs_p": null,
"transcript": "ENST00000492728.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "n.74G>A",
"hgvs_p": null,
"transcript": "ENST00000622533.4",
"protein_id": "ENSP00000480553.1",
"transcript_support_level": 5,
"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": 2937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "n.74G>A",
"hgvs_p": null,
"transcript": "ENST00000650721.1",
"protein_id": "ENSP00000498234.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 2862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "n.74G>A",
"hgvs_p": null,
"transcript": "ENST00000650828.1",
"protein_id": "ENSP00000499019.1",
"transcript_support_level": null,
"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": 2717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "n.74G>A",
"hgvs_p": null,
"transcript": "ENST00000651070.1",
"protein_id": "ENSP00000498564.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "n.74G>A",
"hgvs_p": null,
"transcript": "ENST00000651207.1",
"protein_id": "ENSP00000499060.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 2770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "n.74G>A",
"hgvs_p": null,
"transcript": "ENST00000651226.1",
"protein_id": "ENSP00000498459.1",
"transcript_support_level": null,
"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": 3344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "n.47G>A",
"hgvs_p": null,
"transcript": "ENST00000651231.1",
"protein_id": "ENSP00000499028.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "n.74G>A",
"hgvs_p": null,
"transcript": "ENST00000651407.1",
"protein_id": "ENSP00000499081.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "n.74G>A",
"hgvs_p": null,
"transcript": "ENST00000651410.1",
"protein_id": "ENSP00000498830.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 2792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "n.74G>A",
"hgvs_p": null,
"transcript": "ENST00000651420.1",
"protein_id": "ENSP00000499167.1",
"transcript_support_level": null,
"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": 2841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "n.74G>A",
"hgvs_p": null,
"transcript": "ENST00000651510.1",
"protein_id": "ENSP00000499181.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000369258.8",
"gene_symbol": "CHD1L",
"hgnc_id": 1916,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Arg25Gln"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000650785.1",
"gene_symbol": "ENSG00000237188",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.361-9846G>A",
"hgvs_p": null
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000527849.5",
"gene_symbol": "FMO5",
"hgnc_id": 3773,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "n.-38+36C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}