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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: 2-232844096-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=232844096&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 232844096,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000373563.9",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.2940A>T",
"hgvs_p": "p.Gln980His",
"transcript": "NM_001103146.3",
"protein_id": "NP_001096616.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1299,
"cds_start": 2940,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 3111,
"cdna_end": null,
"cdna_length": 7816,
"mane_select": "ENST00000373563.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.2940A>T",
"hgvs_p": "p.Gln980His",
"transcript": "ENST00000373563.9",
"protein_id": "ENSP00000362664.5",
"transcript_support_level": 1,
"aa_start": 980,
"aa_end": null,
"aa_length": 1299,
"cds_start": 2940,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 3111,
"cdna_end": null,
"cdna_length": 7816,
"mane_select": "NM_001103146.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3003A>T",
"hgvs_p": "p.Gln1001His",
"transcript": "ENST00000409451.7",
"protein_id": "ENSP00000387170.3",
"transcript_support_level": 1,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1320,
"cds_start": 3003,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 3229,
"cdna_end": null,
"cdna_length": 5937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.2940A>T",
"hgvs_p": "p.Gln980His",
"transcript": "ENST00000409547.5",
"protein_id": "ENSP00000386537.1",
"transcript_support_level": 1,
"aa_start": 980,
"aa_end": null,
"aa_length": 1299,
"cds_start": 2940,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 3251,
"cdna_end": null,
"cdna_length": 5978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.2922A>T",
"hgvs_p": "p.Gln974His",
"transcript": "ENST00000409196.7",
"protein_id": "ENSP00000387070.3",
"transcript_support_level": 1,
"aa_start": 974,
"aa_end": null,
"aa_length": 1293,
"cds_start": 2922,
"cds_end": null,
"cds_length": 3882,
"cdna_start": 3020,
"cdna_end": null,
"cdna_length": 5747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3006A>T",
"hgvs_p": "p.Gln1002His",
"transcript": "ENST00000409480.5",
"protein_id": "ENSP00000386765.1",
"transcript_support_level": 5,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1321,
"cds_start": 3006,
"cds_end": null,
"cds_length": 3966,
"cdna_start": 3268,
"cdna_end": null,
"cdna_length": 5976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3006A>T",
"hgvs_p": "p.Gln1002His",
"transcript": "ENST00000629305.2",
"protein_id": "ENSP00000487548.1",
"transcript_support_level": 5,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1321,
"cds_start": 3006,
"cds_end": null,
"cds_length": 3966,
"cdna_start": 3203,
"cdna_end": null,
"cdna_length": 7878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3003A>T",
"hgvs_p": "p.Gln1001His",
"transcript": "NM_001103147.2",
"protein_id": "NP_001096617.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1320,
"cds_start": 3003,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 3244,
"cdna_end": null,
"cdna_length": 7921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.2940A>T",
"hgvs_p": "p.Gln980His",
"transcript": "NM_015575.4",
"protein_id": "NP_056390.2",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1299,
"cds_start": 2940,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 3251,
"cdna_end": null,
"cdna_length": 7928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.2922A>T",
"hgvs_p": "p.Gln974His",
"transcript": "NM_001103148.2",
"protein_id": "NP_001096618.1",
"transcript_support_level": null,
"aa_start": 974,
"aa_end": null,
"aa_length": 1293,
"cds_start": 2922,
"cds_end": null,
"cds_length": 3882,
"cdna_start": 3027,
"cdna_end": null,
"cdna_length": 7704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.2433A>T",
"hgvs_p": "p.Gln811His",
"transcript": "ENST00000678230.1",
"protein_id": "ENSP00000504272.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 1130,
"cds_start": 2433,
"cds_end": null,
"cds_length": 3393,
"cdna_start": 2663,
"cdna_end": null,
"cdna_length": 7338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.2421A>T",
"hgvs_p": "p.Gln807His",
"transcript": "ENST00000677450.1",
"protein_id": "ENSP00000503420.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 1126,
"cds_start": 2421,
"cds_end": null,
"cds_length": 3381,
"cdna_start": 2715,
"cdna_end": null,
"cdna_length": 7390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.2286A>T",
"hgvs_p": "p.Gln762His",
"transcript": "ENST00000676848.1",
"protein_id": "ENSP00000503313.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 1081,
"cds_start": 2286,
"cds_end": null,
"cds_length": 3246,
"cdna_start": 2713,
"cdna_end": null,
"cdna_length": 7388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.2196A>T",
"hgvs_p": "p.Gln732His",
"transcript": "ENST00000677591.1",
"protein_id": "ENSP00000503061.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2196,
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"cds_length": 3156,
"cdna_start": 2565,
"cdna_end": null,
"cdna_length": 7240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.2196A>T",
"hgvs_p": "p.Gln732His",
"transcript": "ENST00000678339.1",
"protein_id": "ENSP00000503437.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2196,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 2557,
"cdna_end": null,
"cdna_length": 7232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.2196A>T",
"hgvs_p": "p.Gln732His",
"transcript": "ENST00000678466.1",
"protein_id": "ENSP00000504219.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2196,
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"cdna_start": 2566,
"cdna_end": null,
"cdna_length": 7241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.2196A>T",
"hgvs_p": "p.Gln732His",
"transcript": "ENST00000678885.1",
"protein_id": "ENSP00000503563.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2196,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 2444,
"cdna_end": null,
"cdna_length": 7119,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "n.140A>T",
"hgvs_p": null,
"transcript": "ENST00000426102.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 561,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "n.450A>T",
"hgvs_p": null,
"transcript": "ENST00000469843.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 550,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "n.204A>T",
"hgvs_p": null,
"transcript": "ENST00000471011.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 539,
"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": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "n.1975A>T",
"hgvs_p": null,
"transcript": "ENST00000474312.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 4687,
"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": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "n.3053A>T",
"hgvs_p": null,
"transcript": "NR_103492.1",
"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": 7575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"dbsnp": "rs3816334",
"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": 0.28094983100891113,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.27,
"revel_prediction": "Benign",
"alphamissense_score": 0.311,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.009,
"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": 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": "ENST00000373563.9",
"gene_symbol": "GIGYF2",
"hgnc_id": 11960,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.2940A>T",
"hgvs_p": "p.Gln980His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}