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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: 6-26458667-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=26458667&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 26458667,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_007049.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Arg11Trp",
"transcript": "NM_007049.5",
"protein_id": "NP_008980.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 527,
"cds_start": 31,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000312541.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007049.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Arg11Trp",
"transcript": "ENST00000312541.10",
"protein_id": "ENSP00000312158.5",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 527,
"cds_start": 31,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007049.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312541.10"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Arg11Trp",
"transcript": "ENST00000429381.5",
"protein_id": "ENSP00000416945.1",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 334,
"cds_start": 31,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429381.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Arg11Trp",
"transcript": "ENST00000469185.5",
"protein_id": "ENSP00000419043.1",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 330,
"cds_start": 31,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000469185.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Arg11Trp",
"transcript": "ENST00000897011.1",
"protein_id": "ENSP00000567070.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 527,
"cds_start": 31,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897011.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Arg11Trp",
"transcript": "ENST00000897006.1",
"protein_id": "ENSP00000567065.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 516,
"cds_start": 31,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897006.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Arg11Trp",
"transcript": "ENST00000897010.1",
"protein_id": "ENSP00000567069.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 513,
"cds_start": 31,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897010.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Arg11Trp",
"transcript": "ENST00000897007.1",
"protein_id": "ENSP00000567066.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 510,
"cds_start": 31,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897007.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Arg11Trp",
"transcript": "ENST00000897009.1",
"protein_id": "ENSP00000567068.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 485,
"cds_start": 31,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897009.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Arg11Trp",
"transcript": "ENST00000957669.1",
"protein_id": "ENSP00000627728.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 473,
"cds_start": 31,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957669.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Arg11Trp",
"transcript": "ENST00000897005.1",
"protein_id": "ENSP00000567064.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 453,
"cds_start": 31,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897005.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Arg11Trp",
"transcript": "ENST00000897008.1",
"protein_id": "ENSP00000567067.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 433,
"cds_start": 31,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897008.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Arg11Trp",
"transcript": "ENST00000957668.1",
"protein_id": "ENSP00000627727.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 422,
"cds_start": 31,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957668.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Arg11Trp",
"transcript": "NM_078476.4",
"protein_id": "NP_510961.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 334,
"cds_start": 31,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_078476.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Arg11Trp",
"transcript": "NM_001197234.3",
"protein_id": "NP_001184163.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 330,
"cds_start": 31,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001197234.3"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.-102+525C>T",
"hgvs_p": null,
"transcript": "NM_001197233.3",
"protein_id": "NP_001184162.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 466,
"cds_start": null,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001197233.3"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.-102+525C>T",
"hgvs_p": null,
"transcript": "ENST00000541522.5",
"protein_id": "ENSP00000443909.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 466,
"cds_start": null,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541522.5"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "c.-102+525C>T",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493173.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"hgvs_c": "n.31C>T",
"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": null,
"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.1000-94520C>T",
"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": null,
"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.1001-74038C>T",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "TEC",
"feature": "ENST00000707191.1"
}
],
"gene_symbol": "BTN2A1",
"gene_hgnc_id": 1136,
"dbsnp": "rs760536633",
"frequency_reference_population": 0.000025403418,
"hom_count_reference_population": 0,
"allele_count_reference_population": 41,
"gnomad_exomes_af": 0.0000266782,
"gnomad_genomes_af": 0.0000131501,
"gnomad_exomes_ac": 39,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05598491430282593,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.159,
"revel_prediction": "Benign",
"alphamissense_score": 0.096,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.645,
"phylop100way_prediction": "Benign",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_007049.5",
"gene_symbol": "BTN2A1",
"hgnc_id": 1136,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Arg11Trp"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000707189.1",
"gene_symbol": "ENSG00000291336",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1000-94520C>T",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000707191.1",
"gene_symbol": "ENSG00000291338",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1001-74038C>T",
"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
}