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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: 16-66573285-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=66573285&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 66573285,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000379500.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CMTM1",
"gene_hgnc_id": 19172,
"hgvs_c": "c.591+3191A>C",
"hgvs_p": null,
"transcript": "NM_052999.4",
"protein_id": "NP_443725.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": -4,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1070,
"mane_select": "ENST00000379500.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CMTM1",
"gene_hgnc_id": 19172,
"hgvs_c": "c.591+3191A>C",
"hgvs_p": null,
"transcript": "ENST00000379500.7",
"protein_id": "ENSP00000368814.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": -4,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1070,
"mane_select": "NM_052999.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CMTM1",
"gene_hgnc_id": 19172,
"hgvs_c": "c.448-3819A>C",
"hgvs_p": null,
"transcript": "ENST00000533953.5",
"protein_id": "ENSP00000435786.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 238,
"cds_start": -4,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CMTM1",
"gene_hgnc_id": 19172,
"hgvs_c": "c.591+3191A>C",
"hgvs_p": null,
"transcript": "ENST00000328020.10",
"protein_id": "ENSP00000330061.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 231,
"cds_start": -4,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CMTM1",
"gene_hgnc_id": 19172,
"hgvs_c": "c.240+3191A>C",
"hgvs_p": null,
"transcript": "ENST00000457188.6",
"protein_id": "ENSP00000405729.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 169,
"cds_start": -4,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CKLF-CMTM1",
"gene_hgnc_id": 39977,
"hgvs_c": "c.238-3819A>C",
"hgvs_p": null,
"transcript": "ENST00000616804.5",
"protein_id": "ENSP00000479319.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 168,
"cds_start": -4,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CMTM1",
"gene_hgnc_id": 19172,
"hgvs_c": "c.100-3819A>C",
"hgvs_p": null,
"transcript": "ENST00000332695.11",
"protein_id": "ENSP00000331428.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 122,
"cds_start": -4,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CMTM1",
"gene_hgnc_id": 19172,
"hgvs_c": "c.82-3819A>C",
"hgvs_p": null,
"transcript": "ENST00000336328.10",
"protein_id": "ENSP00000337119.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 116,
"cds_start": -4,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CMTM1",
"gene_hgnc_id": 19172,
"hgvs_c": "c.240+3191A>C",
"hgvs_p": null,
"transcript": "ENST00000528324.5",
"protein_id": "ENSP00000432398.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 114,
"cds_start": -4,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CMTM1",
"gene_hgnc_id": 19172,
"hgvs_c": "c.-32-3844A>C",
"hgvs_p": null,
"transcript": "ENST00000529506.5",
"protein_id": "ENSP00000434434.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 70,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "CMTM1",
"gene_hgnc_id": 19172,
"hgvs_c": "c.82-3819A>C",
"hgvs_p": null,
"transcript": "ENST00000531885.5",
"protein_id": "ENSP00000432687.1",
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"cds_start": -4,
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},
{
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"consequences": [
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],
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"gene_symbol": "CMTM1",
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"transcript": "ENST00000533666.5",
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},
{
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],
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"gene_symbol": "CMTM1",
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"hgvs_c": "n.*98+2015A>C",
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"transcript": "ENST00000333001.10",
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},
{
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],
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"gene_symbol": "CMTM1",
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"transcript": "ENST00000465057.5",
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},
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],
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},
{
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],
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},
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"transcript": "ENST00000528484.5",
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},
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],
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"gene_symbol": "CMTM1",
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"hgvs_c": "n.*85-1655A>C",
"hgvs_p": null,
"transcript": "ENST00000529386.5",
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},
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"strand": true,
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],
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"intron_rank": 3,
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"hgvs_c": "n.*98+2015A>C",
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},
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],
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},
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],
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"gene_symbol": "CMTM1",
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"hgvs_c": "n.*98+2015A>C",
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"transcript": "ENST00000534143.5",
"protein_id": "ENSP00000431609.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "CMTM1",
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"hgvs_c": "c.591+3191A>C",
"hgvs_p": null,
"transcript": "NM_181268.3",
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},
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}
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}