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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: 6-26463408-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=26463408&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 26463408,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_007049.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Gly199Ser",
"transcript": "NM_007049.5",
"protein_id": "NP_008980.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 527,
"cds_start": 595,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 2890,
"mane_select": "ENST00000312541.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007049.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Gly199Ser",
"transcript": "ENST00000312541.10",
"protein_id": "ENSP00000312158.5",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 527,
"cds_start": 595,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 2890,
"mane_select": "NM_007049.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312541.10"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Gly199Ser",
"transcript": "ENST00000429381.5",
"protein_id": "ENSP00000416945.1",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 334,
"cds_start": 595,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 3113,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429381.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Gly199Ser",
"transcript": "ENST00000469185.5",
"protein_id": "ENSP00000419043.1",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 330,
"cds_start": 595,
"cds_end": null,
"cds_length": 993,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 1687,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000469185.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Gly199Ser",
"transcript": "ENST00000897011.1",
"protein_id": "ENSP00000567070.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 527,
"cds_start": 595,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 883,
"cdna_end": null,
"cdna_length": 2959,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897011.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Gly199Ser",
"transcript": "ENST00000897006.1",
"protein_id": "ENSP00000567065.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 516,
"cds_start": 595,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 2876,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897006.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Gly185Ser",
"transcript": "ENST00000897010.1",
"protein_id": "ENSP00000567069.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 513,
"cds_start": 553,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 2821,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897010.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Gly199Ser",
"transcript": "ENST00000897007.1",
"protein_id": "ENSP00000567066.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 510,
"cds_start": 595,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 820,
"cdna_end": null,
"cdna_length": 2851,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897007.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Gly185Ser",
"transcript": "ENST00000897009.1",
"protein_id": "ENSP00000567068.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 485,
"cds_start": 553,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 2740,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897009.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.412G>A",
"hgvs_p": "p.Gly138Ser",
"transcript": "NM_001197233.3",
"protein_id": "NP_001184162.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 466,
"cds_start": 412,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 2778,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001197233.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.412G>A",
"hgvs_p": "p.Gly138Ser",
"transcript": "ENST00000541522.5",
"protein_id": "ENSP00000443909.1",
"transcript_support_level": 2,
"aa_start": 138,
"aa_end": null,
"aa_length": 466,
"cds_start": 412,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 2845,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541522.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Gly199Ser",
"transcript": "ENST00000897005.1",
"protein_id": "ENSP00000567064.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 453,
"cds_start": 595,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 4690,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897005.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Gly199Ser",
"transcript": "NM_078476.4",
"protein_id": "NP_510961.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 334,
"cds_start": 595,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 3119,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_078476.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Gly199Ser",
"transcript": "NM_001197234.3",
"protein_id": "NP_001184163.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 330,
"cds_start": 595,
"cds_end": null,
"cds_length": 993,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 1701,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001197234.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Gly145Ser",
"transcript": "ENST00000957669.1",
"protein_id": "ENSP00000627728.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 473,
"cds_start": 433,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 2710,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957669.1"
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.431-1777G>A",
"hgvs_p": null,
"transcript": "ENST00000897008.1",
"protein_id": "ENSP00000567067.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 433,
"cds_start": null,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2608,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897008.1"
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.431-1810G>A",
"hgvs_p": null,
"transcript": "ENST00000957668.1",
"protein_id": "ENSP00000627727.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": null,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2591,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957668.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "n.*240G>A",
"hgvs_p": null,
"transcript": "ENST00000377600.7",
"protein_id": "ENSP00000366825.2",
"transcript_support_level": 5,
"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": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000377600.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "n.*240G>A",
"hgvs_p": null,
"transcript": "ENST00000377600.7",
"protein_id": "ENSP00000366825.2",
"transcript_support_level": 5,
"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": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000377600.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291336",
"gene_hgnc_id": null,
"hgvs_c": "n.1000-89779G>A",
"hgvs_p": null,
"transcript": "ENST00000707189.1",
"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": 2209,
"mane_select": null,
"mane_plus": null,
"biotype": "TEC",
"feature": "ENST00000707189.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291338",
"gene_hgnc_id": null,
"hgvs_c": "n.1001-69297G>A",
"hgvs_p": null,
"transcript": "ENST00000707191.1",
"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": 1753,
"mane_select": null,
"mane_plus": null,
"biotype": "TEC",
"feature": "ENST00000707191.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.*155G>A",
"hgvs_p": null,
"transcript": "ENST00000493173.1",
"protein_id": "ENSP00000420447.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 84,
"cds_start": null,
"cds_end": null,
"cds_length": 257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 551,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493173.1"
}
],
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"dbsnp": "rs144358349",
"frequency_reference_population": 0.00011275508,
"hom_count_reference_population": 1,
"allele_count_reference_population": 182,
"gnomad_exomes_af": 0.00011834,
"gnomad_genomes_af": 0.0000591226,
"gnomad_exomes_ac": 173,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12674662470817566,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.095,
"revel_prediction": "Benign",
"alphamissense_score": 0.0967,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.434,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_007049.5",
"gene_symbol": "BTN2A1",
"hgnc_id": 1136,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Gly199Ser"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000707189.1",
"gene_symbol": "ENSG00000291336",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1000-89779G>A",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000707191.1",
"gene_symbol": "ENSG00000291338",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1001-69297G>A",
"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
}