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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: 19-5831880-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=5831880&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 5831880,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000318336.10",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Gln230*",
"transcript": "NM_000150.4",
"protein_id": "NP_000141.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 359,
"cds_start": 688,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1854,
"cdna_end": null,
"cdna_length": 3326,
"mane_select": "ENST00000318336.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Gln230*",
"transcript": "ENST00000318336.10",
"protein_id": "ENSP00000313398.4",
"transcript_support_level": 2,
"aa_start": 230,
"aa_end": null,
"aa_length": 359,
"cds_start": 688,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1854,
"cdna_end": null,
"cdna_length": 3326,
"mane_select": "NM_000150.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Gln230*",
"transcript": "ENST00000592563.1",
"protein_id": "ENSP00000466016.1",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 364,
"cds_start": 688,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 1095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Gln230*",
"transcript": "ENST00000286955.5",
"protein_id": "ENSP00000286955.5",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 359,
"cds_start": 688,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1741,
"cdna_end": null,
"cdna_length": 2847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Gln230*",
"transcript": "ENST00000527106.5",
"protein_id": "ENSP00000432954.1",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 359,
"cds_start": 688,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 2211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Gln230*",
"transcript": "NM_001040701.2",
"protein_id": "NP_001035791.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 359,
"cds_start": 688,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 816,
"cdna_end": null,
"cdna_length": 2288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Gln230*",
"transcript": "NM_001369502.1",
"protein_id": "NP_001356431.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 359,
"cds_start": 688,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 2461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Gln230*",
"transcript": "NM_001369504.1",
"protein_id": "NP_001356433.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 359,
"cds_start": 688,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1144,
"cdna_end": null,
"cdna_length": 2616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Gln230*",
"transcript": "NM_001369505.1",
"protein_id": "NP_001356434.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 359,
"cds_start": 688,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Gln230*",
"transcript": "NM_001381955.1",
"protein_id": "NP_001368884.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 359,
"cds_start": 688,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 2488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Gln230*",
"transcript": "NM_001381956.1",
"protein_id": "NP_001368885.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 359,
"cds_start": 688,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1141,
"cdna_end": null,
"cdna_length": 2613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Gln230*",
"transcript": "ENST00000524754.1",
"protein_id": "ENSP00000431708.1",
"transcript_support_level": 5,
"aa_start": 230,
"aa_end": null,
"aa_length": 359,
"cds_start": 688,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 2598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Gln230*",
"transcript": "NM_001381957.1",
"protein_id": "NP_001368886.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 357,
"cds_start": 688,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 816,
"cdna_end": null,
"cdna_length": 2172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Gln230*",
"transcript": "NM_001381958.1",
"protein_id": "NP_001368887.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 357,
"cds_start": 688,
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"cds_length": 1074,
"cdna_start": 1242,
"cdna_end": null,
"cdna_length": 2598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Gln230*",
"transcript": "NM_001381959.1",
"protein_id": "NP_001368888.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 357,
"cds_start": 688,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 2300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Gln230*",
"transcript": "XM_047438553.1",
"protein_id": "XP_047294509.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 359,
"cds_start": 688,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 2034,
"cdna_end": null,
"cdna_length": 3506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Gln230*",
"transcript": "XM_047438554.1",
"protein_id": "XP_047294510.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 359,
"cds_start": 688,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 2171,
"cdna_end": null,
"cdna_length": 3643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Gln230*",
"transcript": "XM_047438555.1",
"protein_id": "XP_047294511.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 359,
"cds_start": 688,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 2099,
"cdna_end": null,
"cdna_length": 3571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Gln230*",
"transcript": "XM_047438556.1",
"protein_id": "XP_047294512.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 359,
"cds_start": 688,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1971,
"cdna_end": null,
"cdna_length": 3443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Gln230*",
"transcript": "XM_047438557.1",
"protein_id": "XP_047294513.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 359,
"cds_start": 688,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1968,
"cdna_end": null,
"cdna_length": 3440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Gln230*",
"transcript": "XM_047438558.1",
"protein_id": "XP_047294514.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 359,
"cds_start": 688,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 2079,
"cdna_end": null,
"cdna_length": 3551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Gln230*",
"transcript": "XM_047438559.1",
"protein_id": "XP_047294515.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 359,
"cds_start": 688,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1070,
"cdna_end": null,
"cdna_length": 2542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Gln230*",
"transcript": "XM_047438560.1",
"protein_id": "XP_047294516.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
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},
{
"aa_ref": "Q",
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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}
],
"gene_symbol": "FUT6",
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"dbsnp": "rs364637",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 6.84156e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.2800000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.738,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000318336.10",
"gene_symbol": "FUT6",
"hgnc_id": 4017,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Gln230*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}