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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: 6-32949767-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32949767&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 32949767,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006120.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-DMA",
"gene_hgnc_id": 4934,
"hgvs_c": "c.496G>C",
"hgvs_p": "p.Val166Leu",
"transcript": "NM_006120.4",
"protein_id": "NP_006111.2",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 261,
"cds_start": 496,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374843.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006120.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-DMA",
"gene_hgnc_id": 4934,
"hgvs_c": "c.496G>C",
"hgvs_p": "p.Val166Leu",
"transcript": "ENST00000374843.9",
"protein_id": "ENSP00000363976.4",
"transcript_support_level": 6,
"aa_start": 166,
"aa_end": null,
"aa_length": 261,
"cds_start": 496,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006120.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374843.9"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000248993",
"gene_hgnc_id": null,
"hgvs_c": "c.88+3182G>C",
"hgvs_p": null,
"transcript": "ENST00000429234.1",
"protein_id": "ENSP00000412457.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 174,
"cds_start": null,
"cds_end": null,
"cds_length": 526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429234.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-DMA",
"gene_hgnc_id": 4934,
"hgvs_c": "c.586G>C",
"hgvs_p": "p.Val196Leu",
"transcript": "ENST00000456800.1",
"protein_id": "ENSP00000409668.1",
"transcript_support_level": 6,
"aa_start": 196,
"aa_end": null,
"aa_length": 289,
"cds_start": 586,
"cds_end": null,
"cds_length": 871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456800.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-DMA",
"gene_hgnc_id": 4934,
"hgvs_c": "c.496G>C",
"hgvs_p": "p.Val166Leu",
"transcript": "ENST00000869592.1",
"protein_id": "ENSP00000539651.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 260,
"cds_start": 496,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869592.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-DMA",
"gene_hgnc_id": 4934,
"hgvs_c": "c.496G>C",
"hgvs_p": "p.Val166Leu",
"transcript": "ENST00000869593.1",
"protein_id": "ENSP00000539652.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 253,
"cds_start": 496,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869593.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-DMA",
"gene_hgnc_id": 4934,
"hgvs_c": "c.442G>C",
"hgvs_p": "p.Val148Leu",
"transcript": "ENST00000970369.1",
"protein_id": "ENSP00000640428.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 243,
"cds_start": 442,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970369.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-DMA",
"gene_hgnc_id": 4934,
"hgvs_c": "c.394G>C",
"hgvs_p": "p.Val132Leu",
"transcript": "ENST00000395303.7",
"protein_id": "ENSP00000378714.3",
"transcript_support_level": 6,
"aa_start": 132,
"aa_end": null,
"aa_length": 227,
"cds_start": 394,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395303.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-DMA",
"gene_hgnc_id": 4934,
"hgvs_c": "c.394G>C",
"hgvs_p": "p.Val132Leu",
"transcript": "ENST00000869594.1",
"protein_id": "ENSP00000539653.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 226,
"cds_start": 394,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869594.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-DMA",
"gene_hgnc_id": 4934,
"hgvs_c": "c.394G>C",
"hgvs_p": "p.Val132Leu",
"transcript": "ENST00000869598.1",
"protein_id": "ENSP00000539657.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 219,
"cds_start": 394,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869598.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-DMA",
"gene_hgnc_id": 4934,
"hgvs_c": "c.397G>C",
"hgvs_p": "p.Val133Leu",
"transcript": "ENST00000422832.1",
"protein_id": "ENSP00000403122.1",
"transcript_support_level": 6,
"aa_start": 133,
"aa_end": null,
"aa_length": 168,
"cds_start": 397,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422832.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-DMA",
"gene_hgnc_id": 4934,
"hgvs_c": "c.211G>C",
"hgvs_p": "p.Val71Leu",
"transcript": "ENST00000395305.7",
"protein_id": "ENSP00000378716.3",
"transcript_support_level": 6,
"aa_start": 71,
"aa_end": null,
"aa_length": 166,
"cds_start": 211,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395305.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-DMA",
"gene_hgnc_id": 4934,
"hgvs_c": "c.211G>C",
"hgvs_p": "p.Val71Leu",
"transcript": "ENST00000869597.1",
"protein_id": "ENSP00000539656.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 165,
"cds_start": 211,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869597.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-DMA",
"gene_hgnc_id": 4934,
"hgvs_c": "c.109G>C",
"hgvs_p": "p.Val37Leu",
"transcript": "ENST00000869596.1",
"protein_id": "ENSP00000539655.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 132,
"cds_start": 109,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869596.1"
},
{
"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": "HLA-DMA",
"gene_hgnc_id": 4934,
"hgvs_c": "c.374-88G>C",
"hgvs_p": null,
"transcript": "ENST00000915602.1",
"protein_id": "ENSP00000585661.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": null,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915602.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "HLA-DMA",
"gene_hgnc_id": 4934,
"hgvs_c": "c.374-368G>C",
"hgvs_p": null,
"transcript": "ENST00000869595.1",
"protein_id": "ENSP00000539654.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 168,
"cds_start": null,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869595.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "HLA-DMA",
"gene_hgnc_id": 4934,
"hgvs_c": "c.374-368G>C",
"hgvs_p": null,
"transcript": "ENST00000869599.1",
"protein_id": "ENSP00000539658.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": null,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869599.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HLA-DMA",
"gene_hgnc_id": 4934,
"hgvs_c": "c.89-368G>C",
"hgvs_p": null,
"transcript": "ENST00000915603.1",
"protein_id": "ENSP00000585662.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 73,
"cds_start": null,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915603.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HLA-DMA",
"gene_hgnc_id": 4934,
"hgvs_c": "c.89-368G>C",
"hgvs_p": null,
"transcript": "ENST00000869600.1",
"protein_id": "ENSP00000539659.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 72,
"cds_start": null,
"cds_end": null,
"cds_length": 219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869600.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HLA-DMA",
"gene_hgnc_id": 4934,
"hgvs_c": "c.89-899G>C",
"hgvs_p": null,
"transcript": "ENST00000915604.1",
"protein_id": "ENSP00000585663.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 30,
"cds_start": null,
"cds_end": null,
"cds_length": 93,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915604.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-DMA",
"gene_hgnc_id": 4934,
"hgvs_c": "n.423G>C",
"hgvs_p": null,
"transcript": "ENST00000464392.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "ENST00000464392.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-DMA",
"gene_hgnc_id": 4934,
"hgvs_c": "n.1197G>C",
"hgvs_p": null,
"transcript": "ENST00000477541.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "retained_intron",
"feature": "ENST00000477541.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 2,
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"gene_symbol": "HLA-DMA",
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"transcript": "ENST00000480785.5",
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
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"biotype": "retained_intron",
"feature": "ENST00000480785.5"
}
],
"gene_symbol": "HLA-DMA",
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"dbsnp": "rs1063478",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84574e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06117236614227295,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.006,
"revel_prediction": "Benign",
"alphamissense_score": 0.1023,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.26,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_006120.4",
"gene_symbol": "HLA-DMA",
"hgnc_id": 4934,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.496G>C",
"hgvs_p": "p.Val166Leu"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000429234.1",
"gene_symbol": "ENSG00000248993",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.88+3182G>C",
"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
}