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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: 19-1880974-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=1880974&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 1880974,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_031213.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD17A",
"gene_hgnc_id": 28756,
"hgvs_c": "c.407C>G",
"hgvs_p": "p.Ala136Gly",
"transcript": "ENST00000250974.9",
"protein_id": "ENSP00000250974.9",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 361,
"cds_start": 407,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 1630,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000250974.9"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ABHD17A",
"gene_hgnc_id": 28756,
"hgvs_c": "c.332+261C>G",
"hgvs_p": null,
"transcript": "NM_001130111.2",
"protein_id": "NP_001123583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 310,
"cds_start": null,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1706,
"mane_select": "ENST00000292577.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130111.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ABHD17A",
"gene_hgnc_id": 28756,
"hgvs_c": "c.332+261C>G",
"hgvs_p": null,
"transcript": "ENST00000292577.12",
"protein_id": "ENSP00000292577.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 310,
"cds_start": null,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1706,
"mane_select": "NM_001130111.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292577.12"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABHD17A",
"gene_hgnc_id": 28756,
"hgvs_c": "c.332+261C>G",
"hgvs_p": null,
"transcript": "ENST00000590661.1",
"protein_id": "ENSP00000467638.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 225,
"cds_start": null,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1079,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590661.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD17A",
"gene_hgnc_id": 28756,
"hgvs_c": "c.407C>G",
"hgvs_p": "p.Ala136Gly",
"transcript": "NM_031213.4",
"protein_id": "NP_112490.3",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 361,
"cds_start": 407,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 1859,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031213.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD17A",
"gene_hgnc_id": 28756,
"hgvs_c": "c.407C>G",
"hgvs_p": "p.Ala136Gly",
"transcript": "XM_011528338.3",
"protein_id": "XP_011526640.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 361,
"cds_start": 407,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1407,
"cdna_end": null,
"cdna_length": 2476,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528338.3"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ABHD17A",
"gene_hgnc_id": 28756,
"hgvs_c": "c.332+261C>G",
"hgvs_p": null,
"transcript": "ENST00000676686.1",
"protein_id": "ENSP00000504042.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 310,
"cds_start": null,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1781,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676686.1"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ABHD17A",
"gene_hgnc_id": 28756,
"hgvs_c": "c.332+261C>G",
"hgvs_p": null,
"transcript": "ENST00000887329.1",
"protein_id": "ENSP00000557388.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 310,
"cds_start": null,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887329.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABHD17A",
"gene_hgnc_id": 28756,
"hgvs_c": "c.332+261C>G",
"hgvs_p": null,
"transcript": "ENST00000887331.1",
"protein_id": "ENSP00000557390.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 310,
"cds_start": null,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4556,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887331.1"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ABHD17A",
"gene_hgnc_id": 28756,
"hgvs_c": "c.332+261C>G",
"hgvs_p": null,
"transcript": "ENST00000887333.1",
"protein_id": "ENSP00000557392.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 310,
"cds_start": null,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1939,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887333.1"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ABHD17A",
"gene_hgnc_id": 28756,
"hgvs_c": "c.332+261C>G",
"hgvs_p": null,
"transcript": "ENST00000887334.1",
"protein_id": "ENSP00000557393.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 310,
"cds_start": null,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
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"cdna_length": 1595,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887334.1"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ABHD17A",
"gene_hgnc_id": 28756,
"hgvs_c": "c.332+261C>G",
"hgvs_p": null,
"transcript": "ENST00000922835.1",
"protein_id": "ENSP00000592894.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 310,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 4278,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922835.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "ABHD17A",
"gene_hgnc_id": 28756,
"hgvs_c": "c.332+261C>G",
"hgvs_p": null,
"transcript": "ENST00000958657.1",
"protein_id": "ENSP00000628716.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 310,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000958657.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "ABHD17A",
"gene_hgnc_id": 28756,
"hgvs_c": "c.332+261C>G",
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"transcript": "ENST00000958659.1",
"protein_id": "ENSP00000628718.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000958659.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ABHD17A",
"gene_hgnc_id": 28756,
"hgvs_c": "c.332+261C>G",
"hgvs_p": null,
"transcript": "ENST00000958660.1",
"protein_id": "ENSP00000628719.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958660.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ABHD17A",
"gene_hgnc_id": 28756,
"hgvs_c": "c.332+261C>G",
"hgvs_p": null,
"transcript": "ENST00000958658.1",
"protein_id": "ENSP00000628717.1",
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958658.1"
},
{
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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": 2,
"intron_rank_end": null,
"gene_symbol": "ABHD17A",
"gene_hgnc_id": 28756,
"hgvs_c": "c.305+288C>G",
"hgvs_p": null,
"transcript": "ENST00000677868.1",
"protein_id": "ENSP00000504744.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 301,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 1679,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677868.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABHD17A",
"gene_hgnc_id": 28756,
"hgvs_c": "c.305+288C>G",
"hgvs_p": null,
"transcript": "ENST00000887332.1",
"protein_id": "ENSP00000557391.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 301,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000887332.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ABHD17A",
"gene_hgnc_id": 28756,
"hgvs_c": "c.332+261C>G",
"hgvs_p": null,
"transcript": "ENST00000887330.1",
"protein_id": "ENSP00000557389.1",
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"biotype": "protein_coding",
"feature": "ENST00000887330.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABHD17A",
"gene_hgnc_id": 28756,
"hgvs_c": "c.332+261C>G",
"hgvs_p": null,
"transcript": "XM_047439487.1",
"protein_id": "XP_047295443.1",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
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"feature": "XM_047439487.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ABHD17A",
"gene_hgnc_id": 28756,
"hgvs_c": "c.332+261C>G",
"hgvs_p": null,
"transcript": "XM_047439488.1",
"protein_id": "XP_047295444.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 182,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 2121,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439488.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABHD17A",
"gene_hgnc_id": 28756,
"hgvs_c": "n.2368+261C>G",
"hgvs_p": null,
"transcript": "ENST00000588598.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5425,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000588598.5"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABHD17A",
"gene_hgnc_id": 28756,
"hgvs_c": "n.2566+261C>G",
"hgvs_p": null,
"transcript": "ENST00000591351.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 4647,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000591351.5"
}
],
"gene_symbol": "ABHD17A",
"gene_hgnc_id": 28756,
"dbsnp": "rs746433957",
"frequency_reference_population": 0.00020776018,
"hom_count_reference_population": 0,
"allele_count_reference_population": 335,
"gnomad_exomes_af": 0.00022463,
"gnomad_genomes_af": 0.0000459746,
"gnomad_exomes_ac": 328,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05358681082725525,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.034,
"revel_prediction": "Benign",
"alphamissense_score": 0.0774,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.248,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_031213.4",
"gene_symbol": "ABHD17A",
"hgnc_id": 28756,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.407C>G",
"hgvs_p": "p.Ala136Gly"
}
],
"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
}