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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: 12-100971336-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=100971336&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 100971336,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001286615.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Val163Met",
"transcript": "NM_001286615.2",
"protein_id": "NP_001273544.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 955,
"cds_start": 487,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 4033,
"mane_select": "ENST00000392977.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Val163Met",
"transcript": "ENST00000392977.8",
"protein_id": "ENSP00000376703.3",
"transcript_support_level": 2,
"aa_start": 163,
"aa_end": null,
"aa_length": 955,
"cds_start": 487,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 4033,
"mane_select": "NM_001286615.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.-89G>A",
"hgvs_p": null,
"transcript": "XM_024448841.2",
"protein_id": "XP_024304609.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 784,
"cds_start": -4,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.-124G>A",
"hgvs_p": null,
"transcript": "XM_024448842.2",
"protein_id": "XP_024304610.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 784,
"cds_start": -4,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.985G>A",
"hgvs_p": "p.Val329Met",
"transcript": "ENST00000644049.1",
"protein_id": "ENSP00000494481.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 1121,
"cds_start": 985,
"cds_end": null,
"cds_length": 3366,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 3797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Val163Met",
"transcript": "NM_001286616.1",
"protein_id": "NP_001273545.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 955,
"cds_start": 487,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 627,
"cdna_end": null,
"cdna_length": 3797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Val128Met",
"transcript": "NM_178826.4",
"protein_id": "NP_849148.2",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 920,
"cds_start": 382,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 3928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Val128Met",
"transcript": "ENST00000392979.7",
"protein_id": "ENSP00000376705.3",
"transcript_support_level": 2,
"aa_start": 128,
"aa_end": null,
"aa_length": 920,
"cds_start": 382,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 3909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Val360Met",
"transcript": "XM_011537911.3",
"protein_id": "XP_011536213.2",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 1152,
"cds_start": 1078,
"cds_end": null,
"cds_length": 3459,
"cdna_start": 1250,
"cdna_end": null,
"cdna_length": 4416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Val360Met",
"transcript": "XM_011537912.3",
"protein_id": "XP_011536214.2",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 1152,
"cds_start": 1078,
"cds_end": null,
"cds_length": 3459,
"cdna_start": 1250,
"cdna_end": null,
"cdna_length": 4420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Val360Met",
"transcript": "XM_011537913.3",
"protein_id": "XP_011536215.2",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 1137,
"cds_start": 1078,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 1250,
"cdna_end": null,
"cdna_length": 4371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Val360Met",
"transcript": "XM_047428302.1",
"protein_id": "XP_047284258.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 1137,
"cds_start": 1078,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 1250,
"cdna_end": null,
"cdna_length": 4375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Val325Met",
"transcript": "XM_047428303.1",
"protein_id": "XP_047284259.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 1117,
"cds_start": 973,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 4311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Val325Met",
"transcript": "XM_047428305.1",
"protein_id": "XP_047284261.1",
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"aa_start": 325,
"aa_end": null,
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"cds_start": 973,
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"cdna_start": 1145,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Val325Met",
"transcript": "XM_047428306.1",
"protein_id": "XP_047284262.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 1102,
"cds_start": 973,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 4266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Val325Met",
"transcript": "XM_047428307.1",
"protein_id": "XP_047284263.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 1102,
"cds_start": 973,
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"cdna_start": 1145,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Val360Met",
"transcript": "XM_011537915.3",
"protein_id": "XP_011536217.2",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 1093,
"cds_start": 1078,
"cds_end": null,
"cds_length": 3282,
"cdna_start": 1250,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Val360Met",
"transcript": "XM_047428308.1",
"protein_id": "XP_047284264.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 1093,
"cds_start": 1078,
"cds_end": null,
"cds_length": 3282,
"cdna_start": 1250,
"cdna_end": null,
"cdna_length": 4243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Val213Met",
"transcript": "XM_011537916.3",
"protein_id": "XP_011536218.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 1005,
"cds_start": 637,
"cds_end": null,
"cds_length": 3018,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 3884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Val360Met",
"transcript": "XM_011537918.3",
"protein_id": "XP_011536220.2",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 648,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1250,
"cdna_end": null,
"cdna_length": 5729,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "n.985G>A",
"hgvs_p": null,
"transcript": "ENST00000549155.6",
"protein_id": "ENSP00000449116.2",
"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": 1385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.-89G>A",
"hgvs_p": null,
"transcript": "XM_024448841.2",
"protein_id": "XP_024304609.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 784,
"cds_start": -4,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.-124G>A",
"hgvs_p": null,
"transcript": "XM_024448842.2",
"protein_id": "XP_024304610.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 784,
"cds_start": -4,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"dbsnp": "rs998435026",
"frequency_reference_population": 0.000016140466,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000157669,
"gnomad_genomes_af": 0.0000197226,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.49112096428871155,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.436,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.378,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.99,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP2,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001286615.2",
"gene_symbol": "ANO4",
"hgnc_id": 23837,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Val163Met"
}
],
"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
}