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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: 2-218266075-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=218266075&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 218266075,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001302545.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMP",
"gene_hgnc_id": 18,
"hgvs_c": "c.752A>T",
"hgvs_p": "p.His251Leu",
"transcript": "NM_001087.5",
"protein_id": "NP_001078.2",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 434,
"cds_start": 752,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000248450.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001087.5"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMP",
"gene_hgnc_id": 18,
"hgvs_c": "c.752A>T",
"hgvs_p": "p.His251Leu",
"transcript": "ENST00000248450.9",
"protein_id": "ENSP00000248450.4",
"transcript_support_level": 1,
"aa_start": 251,
"aa_end": null,
"aa_length": 434,
"cds_start": 752,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001087.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000248450.9"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMP",
"gene_hgnc_id": 18,
"hgvs_c": "c.755A>T",
"hgvs_p": "p.His252Leu",
"transcript": "ENST00000444053.5",
"protein_id": "ENSP00000403343.1",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 435,
"cds_start": 755,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444053.5"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMP",
"gene_hgnc_id": 18,
"hgvs_c": "c.755A>T",
"hgvs_p": "p.His252Leu",
"transcript": "NM_001302545.2",
"protein_id": "NP_001289474.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 435,
"cds_start": 755,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302545.2"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMP",
"gene_hgnc_id": 18,
"hgvs_c": "c.743A>T",
"hgvs_p": "p.His248Leu",
"transcript": "ENST00000896972.1",
"protein_id": "ENSP00000567031.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 431,
"cds_start": 743,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896972.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMP",
"gene_hgnc_id": 18,
"hgvs_c": "c.752A>T",
"hgvs_p": "p.His251Leu",
"transcript": "ENST00000912377.1",
"protein_id": "ENSP00000582436.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 429,
"cds_start": 752,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912377.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMP",
"gene_hgnc_id": 18,
"hgvs_c": "c.755A>T",
"hgvs_p": "p.His252Leu",
"transcript": "ENST00000952048.1",
"protein_id": "ENSP00000622107.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 428,
"cds_start": 755,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952048.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMP",
"gene_hgnc_id": 18,
"hgvs_c": "c.752A>T",
"hgvs_p": "p.His251Leu",
"transcript": "ENST00000952045.1",
"protein_id": "ENSP00000622104.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 421,
"cds_start": 752,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952045.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMP",
"gene_hgnc_id": 18,
"hgvs_c": "c.707A>T",
"hgvs_p": "p.His236Leu",
"transcript": "ENST00000952043.1",
"protein_id": "ENSP00000622102.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 419,
"cds_start": 707,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952043.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMP",
"gene_hgnc_id": 18,
"hgvs_c": "c.704A>T",
"hgvs_p": "p.His235Leu",
"transcript": "ENST00000952044.1",
"protein_id": "ENSP00000622103.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 418,
"cds_start": 704,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952044.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMP",
"gene_hgnc_id": 18,
"hgvs_c": "c.695A>T",
"hgvs_p": "p.His232Leu",
"transcript": "ENST00000420660.5",
"protein_id": "ENSP00000416394.1",
"transcript_support_level": 2,
"aa_start": 232,
"aa_end": null,
"aa_length": 415,
"cds_start": 695,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420660.5"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMP",
"gene_hgnc_id": 18,
"hgvs_c": "c.632A>T",
"hgvs_p": "p.His211Leu",
"transcript": "ENST00000896973.1",
"protein_id": "ENSP00000567032.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 394,
"cds_start": 632,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896973.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMP",
"gene_hgnc_id": 18,
"hgvs_c": "c.599A>T",
"hgvs_p": "p.His200Leu",
"transcript": "ENST00000952046.1",
"protein_id": "ENSP00000622105.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 383,
"cds_start": 599,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952046.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMP",
"gene_hgnc_id": 18,
"hgvs_c": "c.752A>T",
"hgvs_p": "p.His251Leu",
"transcript": "ENST00000912378.1",
"protein_id": "ENSP00000582437.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 369,
"cds_start": 752,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912378.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMP",
"gene_hgnc_id": 18,
"hgvs_c": "c.5A>T",
"hgvs_p": "p.His2Leu",
"transcript": "ENST00000422731.1",
"protein_id": "ENSP00000396295.1",
"transcript_support_level": 3,
"aa_start": 2,
"aa_end": null,
"aa_length": 188,
"cds_start": 5,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422731.1"
},
{
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AAMP",
"gene_hgnc_id": 18,
"hgvs_c": "c.683-129A>T",
"hgvs_p": null,
"transcript": "ENST00000952047.1",
"protein_id": "ENSP00000622106.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 407,
"cds_start": null,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952047.1"
},
{
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AAMP",
"gene_hgnc_id": 18,
"hgvs_c": "c.680-129A>T",
"hgvs_p": null,
"transcript": "ENST00000896971.1",
"protein_id": "ENSP00000567030.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 406,
"cds_start": null,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896971.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMP",
"gene_hgnc_id": 18,
"hgvs_c": "n.475A>T",
"hgvs_p": null,
"transcript": "ENST00000465442.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000465442.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMP",
"gene_hgnc_id": 18,
"hgvs_c": "n.1049A>T",
"hgvs_p": null,
"transcript": "ENST00000475678.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000475678.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMP",
"gene_hgnc_id": 18,
"hgvs_c": "n.782A>T",
"hgvs_p": null,
"transcript": "ENST00000489767.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000489767.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMP",
"gene_hgnc_id": 18,
"hgvs_c": "c.*12A>T",
"hgvs_p": null,
"transcript": "ENST00000447885.1",
"protein_id": "ENSP00000393818.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 199,
"cds_start": null,
"cds_end": null,
"cds_length": 602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447885.1"
},
{
"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": "AAMP",
"gene_hgnc_id": 18,
"hgvs_c": "n.-154A>T",
"hgvs_p": null,
"transcript": "ENST00000494720.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000494720.5"
}
],
"gene_symbol": "AAMP",
"gene_hgnc_id": 18,
"dbsnp": "rs770762630",
"frequency_reference_population": 6.8406564e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84066e-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": 0.29407650232315063,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.176,
"revel_prediction": "Benign",
"alphamissense_score": 0.1367,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.66,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001302545.2",
"gene_symbol": "AAMP",
"hgnc_id": 18,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.755A>T",
"hgvs_p": "p.His252Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}