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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: 5-75666984-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=75666984&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 75666984,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_001276713.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Gln462*",
"transcript": "NM_001276713.2",
"protein_id": "NP_001263642.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 528,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000601380.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276713.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Gln462*",
"transcript": "ENST00000601380.4",
"protein_id": "ENSP00000471417.1",
"transcript_support_level": 5,
"aa_start": 462,
"aa_end": null,
"aa_length": 528,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001276713.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601380.4"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "n.640C>T",
"hgvs_p": null,
"transcript": "ENST00000506596.6",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000506596.6"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.1519C>T",
"hgvs_p": "p.Gln507*",
"transcript": "ENST00000885189.1",
"protein_id": "ENSP00000555248.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 573,
"cds_start": 1519,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885189.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.1180C>T",
"hgvs_p": "p.Gln394*",
"transcript": "ENST00000885191.1",
"protein_id": "ENSP00000555250.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 460,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885191.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.1252C>T",
"hgvs_p": "p.Gln418*",
"transcript": "ENST00000672660.1",
"protein_id": "ENSP00000500535.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 440,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672660.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.1087C>T",
"hgvs_p": "p.Gln363*",
"transcript": "ENST00000885187.1",
"protein_id": "ENSP00000555246.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 429,
"cds_start": 1087,
"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": "ENST00000885187.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.958C>T",
"hgvs_p": "p.Gln320*",
"transcript": "ENST00000672844.1",
"protein_id": "ENSP00000500471.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 386,
"cds_start": 958,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672844.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Gln361*",
"transcript": "ENST00000885186.1",
"protein_id": "ENSP00000555245.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 383,
"cds_start": 1081,
"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": "ENST00000885186.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Gln317*",
"transcript": "ENST00000885188.1",
"protein_id": "ENSP00000555247.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 383,
"cds_start": 949,
"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": "ENST00000885188.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Gln317*",
"transcript": "ENST00000885190.1",
"protein_id": "ENSP00000555249.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 339,
"cds_start": 949,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885190.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.784C>T",
"hgvs_p": "p.Gln262*",
"transcript": "ENST00000960211.1",
"protein_id": "ENSP00000630270.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 328,
"cds_start": 784,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960211.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Gln209*",
"transcript": "ENST00000672850.1",
"protein_id": "ENSP00000500538.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 275,
"cds_start": 625,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672850.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.685C>T",
"hgvs_p": "p.Gln229*",
"transcript": "ENST00000960210.1",
"protein_id": "ENSP00000630269.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 251,
"cds_start": 685,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960210.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.1489C>T",
"hgvs_p": "p.Gln497*",
"transcript": "XM_017009814.2",
"protein_id": "XP_016865303.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 563,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009814.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.1489C>T",
"hgvs_p": "p.Gln497*",
"transcript": "XM_017009815.2",
"protein_id": "XP_016865304.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 519,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009815.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.1291C>T",
"hgvs_p": "p.Gln431*",
"transcript": "XM_017009816.2",
"protein_id": "XP_016865305.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 497,
"cds_start": 1291,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009816.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Gln462*",
"transcript": "XM_011543618.3",
"protein_id": "XP_011541920.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 484,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543618.3"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Gln317*",
"transcript": "XM_011543623.3",
"protein_id": "XP_011541925.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 383,
"cds_start": 949,
"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": "XM_011543623.3"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.736C>T",
"hgvs_p": "p.Gln246*",
"transcript": "XM_047417686.1",
"protein_id": "XP_047273642.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 312,
"cds_start": 736,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417686.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.178-3995C>T",
"hgvs_p": null,
"transcript": "ENST00000672390.1",
"protein_id": "ENSP00000500681.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 76,
"cds_start": null,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672390.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "n.1030C>T",
"hgvs_p": null,
"transcript": "ENST00000504514.7",
"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",
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{
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{
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{
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{
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{
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{
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],
"gene_symbol": "ANKDD1B",
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"dbsnp": "rs534392284",
"frequency_reference_population": 0.00040598697,
"hom_count_reference_population": 7,
"allele_count_reference_population": 600,
"gnomad_exomes_af": 0.000407354,
"gnomad_genomes_af": 0.000394083,
"gnomad_exomes_ac": 540,
"gnomad_genomes_ac": 60,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5699999928474426,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.57,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.157,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001276713.2",
"gene_symbol": "ANKDD1B",
"hgnc_id": 32525,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Gln462*"
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}