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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: 5-75656076-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=75656076&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 75656076,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000601380.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.945G>A",
"hgvs_p": "p.Thr315Thr",
"transcript": "NM_001276713.2",
"protein_id": "NP_001263642.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 528,
"cds_start": 945,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 1127,
"cdna_end": null,
"cdna_length": 2575,
"mane_select": "ENST00000601380.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.945G>A",
"hgvs_p": "p.Thr315Thr",
"transcript": "ENST00000601380.4",
"protein_id": "ENSP00000471417.1",
"transcript_support_level": 5,
"aa_start": 315,
"aa_end": null,
"aa_length": 528,
"cds_start": 945,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 1127,
"cdna_end": null,
"cdna_length": 2575,
"mane_select": "NM_001276713.2",
"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": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "n.201G>A",
"hgvs_p": null,
"transcript": "ENST00000506596.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 1649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.813G>A",
"hgvs_p": "p.Thr271Thr",
"transcript": "ENST00000672660.1",
"protein_id": "ENSP00000500535.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 440,
"cds_start": 813,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 1969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.519G>A",
"hgvs_p": "p.Thr173Thr",
"transcript": "ENST00000672844.1",
"protein_id": "ENSP00000500471.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 386,
"cds_start": 519,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 527,
"cdna_end": null,
"cdna_length": 1973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.186G>A",
"hgvs_p": "p.Thr62Thr",
"transcript": "ENST00000672850.1",
"protein_id": "ENSP00000500538.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 275,
"cds_start": 186,
"cds_end": null,
"cds_length": 828,
"cdna_start": 214,
"cdna_end": null,
"cdna_length": 1662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.126G>A",
"hgvs_p": "p.Thr42Thr",
"transcript": "ENST00000672390.1",
"protein_id": "ENSP00000500681.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 76,
"cds_start": 126,
"cds_end": null,
"cds_length": 231,
"cdna_start": 128,
"cdna_end": null,
"cdna_length": 1003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.1050G>A",
"hgvs_p": "p.Thr350Thr",
"transcript": "XM_017009814.2",
"protein_id": "XP_016865303.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 563,
"cds_start": 1050,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1232,
"cdna_end": null,
"cdna_length": 2680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.1050G>A",
"hgvs_p": "p.Thr350Thr",
"transcript": "XM_017009815.2",
"protein_id": "XP_016865304.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 519,
"cds_start": 1050,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1232,
"cdna_end": null,
"cdna_length": 2548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.945G>A",
"hgvs_p": "p.Thr315Thr",
"transcript": "XM_011543618.3",
"protein_id": "XP_011541920.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 484,
"cds_start": 945,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1127,
"cdna_end": null,
"cdna_length": 2443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.510G>A",
"hgvs_p": "p.Thr170Thr",
"transcript": "XM_011543623.3",
"protein_id": "XP_011541925.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 383,
"cds_start": 510,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 2140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.297G>A",
"hgvs_p": "p.Thr99Thr",
"transcript": "XM_047417686.1",
"protein_id": "XP_047273642.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 312,
"cds_start": 297,
"cds_end": null,
"cds_length": 939,
"cdna_start": 720,
"cdna_end": null,
"cdna_length": 2168,
"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": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "n.591G>A",
"hgvs_p": null,
"transcript": "ENST00000504514.7",
"protein_id": null,
"transcript_support_level": 5,
"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": 1125,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "n.718G>A",
"hgvs_p": null,
"transcript": "ENST00000594319.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 791,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "n.*133G>A",
"hgvs_p": null,
"transcript": "ENST00000672400.1",
"protein_id": "ENSP00000500812.1",
"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": 1122,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "n.156G>A",
"hgvs_p": null,
"transcript": "ENST00000672802.1",
"protein_id": "ENSP00000500285.1",
"transcript_support_level": null,
"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": 934,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "n.*133G>A",
"hgvs_p": null,
"transcript": "ENST00000673225.1",
"protein_id": "ENSP00000500047.1",
"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": 1179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "n.*133G>A",
"hgvs_p": null,
"transcript": "ENST00000672400.1",
"protein_id": "ENSP00000500812.1",
"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": 1122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "n.*133G>A",
"hgvs_p": null,
"transcript": "ENST00000673225.1",
"protein_id": "ENSP00000500047.1",
"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": 1179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "n.194-3207G>A",
"hgvs_p": null,
"transcript": "ENST00000672135.1",
"protein_id": "ENSP00000500556.1",
"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": 1028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "n.23-3207G>A",
"hgvs_p": null,
"transcript": "ENST00000673223.1",
"protein_id": "ENSP00000500095.1",
"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": 1209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.904-3207G>A",
"hgvs_p": null,
"transcript": "XM_017009816.2",
"protein_id": "XP_016865305.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 497,
"cds_start": -4,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"dbsnp": "rs7717355",
"frequency_reference_population": 0.10679039,
"hom_count_reference_population": 9935,
"allele_count_reference_population": 162982,
"gnomad_exomes_af": 0.10656,
"gnomad_genomes_af": 0.108872,
"gnomad_exomes_ac": 146425,
"gnomad_genomes_ac": 16557,
"gnomad_exomes_homalt": 8891,
"gnomad_genomes_homalt": 1044,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.012000000104308128,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.012,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.534,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.13,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000601380.4",
"gene_symbol": "ANKDD1B",
"hgnc_id": 32525,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.945G>A",
"hgvs_p": "p.Thr315Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}