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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: 5-153764516-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=153764516&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 153764516,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000285900.10",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.1906G>A",
"hgvs_p": "p.Ala636Thr",
"transcript": "NM_000827.4",
"protein_id": "NP_000818.2",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 906,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2125,
"cdna_end": null,
"cdna_length": 5584,
"mane_select": "ENST00000285900.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.1906G>A",
"hgvs_p": "p.Ala636Thr",
"transcript": "ENST00000285900.10",
"protein_id": "ENSP00000285900.4",
"transcript_support_level": 1,
"aa_start": 636,
"aa_end": null,
"aa_length": 906,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2125,
"cdna_end": null,
"cdna_length": 5584,
"mane_select": "NM_000827.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.1906G>A",
"hgvs_p": "p.Ala636Thr",
"transcript": "ENST00000340592.10",
"protein_id": "ENSP00000339343.5",
"transcript_support_level": 1,
"aa_start": 636,
"aa_end": null,
"aa_length": 906,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2125,
"cdna_end": null,
"cdna_length": 5584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.1906G>A",
"hgvs_p": "p.Ala636Thr",
"transcript": "ENST00000706733.1",
"protein_id": "ENSP00000516520.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 947,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 2168,
"cdna_end": null,
"cdna_length": 5736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.1936G>A",
"hgvs_p": "p.Ala646Thr",
"transcript": "NM_001258021.2",
"protein_id": "NP_001244950.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 916,
"cds_start": 1936,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 1963,
"cdna_end": null,
"cdna_length": 5422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.1936G>A",
"hgvs_p": "p.Ala646Thr",
"transcript": "NM_001258022.2",
"protein_id": "NP_001244951.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 916,
"cds_start": 1936,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 1963,
"cdna_end": null,
"cdna_length": 5422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.1936G>A",
"hgvs_p": "p.Ala646Thr",
"transcript": "ENST00000448073.8",
"protein_id": "ENSP00000415569.2",
"transcript_support_level": 2,
"aa_start": 646,
"aa_end": null,
"aa_length": 916,
"cds_start": 1936,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 1963,
"cdna_end": null,
"cdna_length": 2825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.1936G>A",
"hgvs_p": "p.Ala646Thr",
"transcript": "ENST00000518783.1",
"protein_id": "ENSP00000428994.1",
"transcript_support_level": 2,
"aa_start": 646,
"aa_end": null,
"aa_length": 916,
"cds_start": 1936,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 1963,
"cdna_end": null,
"cdna_length": 5233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.1933G>A",
"hgvs_p": "p.Ala645Thr",
"transcript": "NM_001364166.2",
"protein_id": "NP_001351095.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 915,
"cds_start": 1933,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2572,
"cdna_end": null,
"cdna_length": 6031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.1933G>A",
"hgvs_p": "p.Ala645Thr",
"transcript": "ENST00000706734.1",
"protein_id": "ENSP00000516521.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 915,
"cds_start": 1933,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2277,
"cdna_end": null,
"cdna_length": 3437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.1906G>A",
"hgvs_p": "p.Ala636Thr",
"transcript": "NM_001114183.2",
"protein_id": "NP_001107655.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 906,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2125,
"cdna_end": null,
"cdna_length": 5584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.1738G>A",
"hgvs_p": "p.Ala580Thr",
"transcript": "NM_001364165.2",
"protein_id": "NP_001351094.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 850,
"cds_start": 1738,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 1957,
"cdna_end": null,
"cdna_length": 5416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.1699G>A",
"hgvs_p": "p.Ala567Thr",
"transcript": "NM_001258023.1",
"protein_id": "NP_001244952.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 837,
"cds_start": 1699,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 1860,
"cdna_end": null,
"cdna_length": 5319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.1699G>A",
"hgvs_p": "p.Ala567Thr",
"transcript": "NM_001364167.2",
"protein_id": "NP_001351096.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 837,
"cds_start": 1699,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2487,
"cdna_end": null,
"cdna_length": 5946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.1699G>A",
"hgvs_p": "p.Ala567Thr",
"transcript": "ENST00000521843.6",
"protein_id": "ENSP00000427864.2",
"transcript_support_level": 2,
"aa_start": 567,
"aa_end": null,
"aa_length": 837,
"cds_start": 1699,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 1860,
"cdna_end": null,
"cdna_length": 3069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.1666G>A",
"hgvs_p": "p.Ala556Thr",
"transcript": "NM_001258019.2",
"protein_id": "NP_001244948.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 826,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 1885,
"cdna_end": null,
"cdna_length": 5344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.1666G>A",
"hgvs_p": "p.Ala556Thr",
"transcript": "ENST00000518142.5",
"protein_id": "ENSP00000427920.1",
"transcript_support_level": 2,
"aa_start": 556,
"aa_end": null,
"aa_length": 826,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 1900,
"cdna_end": null,
"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.1621G>A",
"hgvs_p": "p.Ala541Thr",
"transcript": "NM_001258020.2",
"protein_id": "NP_001244949.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 811,
"cds_start": 1621,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 2182,
"cdna_end": null,
"cdna_length": 5641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.1846G>A",
"hgvs_p": "p.Ala616Thr",
"transcript": "XM_047417128.1",
"protein_id": "XP_047273084.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 886,
"cds_start": 1846,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 2047,
"cdna_end": null,
"cdna_length": 5506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.1936G>A",
"hgvs_p": "p.Ala646Thr",
"transcript": "XM_017009392.2",
"protein_id": "XP_016864881.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 846,
"cds_start": 1936,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 1963,
"cdna_end": null,
"cdna_length": 2587,
"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": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "n.1987G>A",
"hgvs_p": null,
"transcript": "NR_047578.2",
"protein_id": null,
"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": 5331,
"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": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "n.2125G>A",
"hgvs_p": null,
"transcript": "NR_157093.2",
"protein_id": null,
"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": 5699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"dbsnp": "rs587776937",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9718211889266968,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.782,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9983,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.773,
"phylop100way_prediction": "Pathogenic",
"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": 14,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000285900.10",
"gene_symbol": "GRIA1",
"hgnc_id": 4571,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD,Unknown",
"hgvs_c": "c.1906G>A",
"hgvs_p": "p.Ala636Thr"
}
],
"clinvar_disease": " autosomal dominant 67,Intellectual developmental disorder,Intellectual disability,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 LP:2",
"phenotype_combined": "not provided|Intellectual developmental disorder, autosomal dominant 67|Intellectual disability",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}