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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: 21-29555098-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=29555098&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 29555098,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001330994.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.2561T>C",
"hgvs_p": "p.Ile854Thr",
"transcript": "NM_001330994.2",
"protein_id": "NP_001317923.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 949,
"cds_start": 2561,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000327783.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330994.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.2561T>C",
"hgvs_p": "p.Ile854Thr",
"transcript": "ENST00000327783.9",
"protein_id": "ENSP00000327687.4",
"transcript_support_level": 5,
"aa_start": 854,
"aa_end": null,
"aa_length": 949,
"cds_start": 2561,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001330994.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327783.9"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.2561T>C",
"hgvs_p": "p.Ile854Thr",
"transcript": "ENST00000399907.6",
"protein_id": "ENSP00000382791.1",
"transcript_support_level": 1,
"aa_start": 854,
"aa_end": null,
"aa_length": 918,
"cds_start": 2561,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399907.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.2516T>C",
"hgvs_p": "p.Ile839Thr",
"transcript": "ENST00000389125.7",
"protein_id": "ENSP00000373777.3",
"transcript_support_level": 1,
"aa_start": 839,
"aa_end": null,
"aa_length": 905,
"cds_start": 2516,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389125.7"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.2516T>C",
"hgvs_p": "p.Ile839Thr",
"transcript": "NM_001330993.2",
"protein_id": "NP_001317922.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 934,
"cds_start": 2516,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330993.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.2516T>C",
"hgvs_p": "p.Ile839Thr",
"transcript": "ENST00000399914.5",
"protein_id": "ENSP00000382798.1",
"transcript_support_level": 5,
"aa_start": 839,
"aa_end": null,
"aa_length": 934,
"cds_start": 2516,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399914.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.2561T>C",
"hgvs_p": "p.Ile854Thr",
"transcript": "NM_001320616.2",
"protein_id": "NP_001307545.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 920,
"cds_start": 2561,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320616.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.2561T>C",
"hgvs_p": "p.Ile854Thr",
"transcript": "ENST00000399913.5",
"protein_id": "ENSP00000382797.1",
"transcript_support_level": 2,
"aa_start": 854,
"aa_end": null,
"aa_length": 920,
"cds_start": 2561,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399913.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.2561T>C",
"hgvs_p": "p.Ile854Thr",
"transcript": "NM_000830.6",
"protein_id": "NP_000821.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 918,
"cds_start": 2561,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000830.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.2516T>C",
"hgvs_p": "p.Ile839Thr",
"transcript": "NM_175611.3",
"protein_id": "NP_783300.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 905,
"cds_start": 2516,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_175611.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.2516T>C",
"hgvs_p": "p.Ile839Thr",
"transcript": "NM_001410706.1",
"protein_id": "NP_001397635.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 903,
"cds_start": 2516,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410706.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.2516T>C",
"hgvs_p": "p.Ile839Thr",
"transcript": "ENST00000399909.5",
"protein_id": "ENSP00000382793.1",
"transcript_support_level": 5,
"aa_start": 839,
"aa_end": null,
"aa_length": 903,
"cds_start": 2516,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399909.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.2561T>C",
"hgvs_p": "p.Ile854Thr",
"transcript": "NM_001393425.1",
"protein_id": "NP_001380354.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 880,
"cds_start": 2561,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393425.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.2561T>C",
"hgvs_p": "p.Ile854Thr",
"transcript": "ENST00000389124.6",
"protein_id": "ENSP00000373776.2",
"transcript_support_level": 5,
"aa_start": 854,
"aa_end": null,
"aa_length": 871,
"cds_start": 2561,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389124.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.2516T>C",
"hgvs_p": "p.Ile839Thr",
"transcript": "NM_001393424.1",
"protein_id": "NP_001380353.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 865,
"cds_start": 2516,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393424.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.2393T>C",
"hgvs_p": "p.Ile798Thr",
"transcript": "NM_001393426.1",
"protein_id": "NP_001380355.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 862,
"cds_start": 2393,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393426.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.2144T>C",
"hgvs_p": "p.Ile715Thr",
"transcript": "NM_001320618.2",
"protein_id": "NP_001307547.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 781,
"cds_start": 2144,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320618.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.2090T>C",
"hgvs_p": "p.Ile697Thr",
"transcript": "NM_001320621.2",
"protein_id": "NP_001307550.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 763,
"cds_start": 2090,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320621.2"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BACH1",
"gene_hgnc_id": 935,
"hgvs_c": "c.472-27214A>G",
"hgvs_p": null,
"transcript": "ENST00000422809.5",
"protein_id": "ENSP00000416569.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 217,
"cds_start": null,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422809.5"
},
{
"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": "BACH1",
"gene_hgnc_id": 935,
"hgvs_c": "c.325-42472A>G",
"hgvs_p": null,
"transcript": "ENST00000468059.1",
"protein_id": "ENSP00000470673.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 137,
"cds_start": null,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000468059.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124905006",
"gene_hgnc_id": null,
"hgvs_c": "n.-199A>G",
"hgvs_p": null,
"transcript": "XR_007067838.1",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_007067838.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124905006",
"gene_hgnc_id": null,
"hgvs_c": "n.-199A>G",
"hgvs_p": null,
"transcript": "XR_007067839.1",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_007067839.1"
}
],
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"dbsnp": "rs1485260883",
"frequency_reference_population": 6.85952e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85952e-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": 0.7544296979904175,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.431,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1227,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.318,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001330994.2",
"gene_symbol": "GRIK1",
"hgnc_id": 4579,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2561T>C",
"hgvs_p": "p.Ile854Thr"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000468059.1",
"gene_symbol": "BACH1",
"hgnc_id": 935,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.325-42472A>G",
"hgvs_p": null
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007067838.1",
"gene_symbol": "LOC124905006",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-199A>G",
"hgvs_p": null
}
],
"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
}