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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: 3-15670427-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=15670427&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 15670427,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001349277.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.3095G>T",
"hgvs_p": "p.Arg1032Leu",
"transcript": "NM_001349278.2",
"protein_id": "NP_001336207.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1083,
"cds_start": 3095,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683139.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349278.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.3095G>T",
"hgvs_p": "p.Arg1032Leu",
"transcript": "ENST00000683139.1",
"protein_id": "ENSP00000508086.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1083,
"cds_start": 3095,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001349278.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683139.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.3005G>T",
"hgvs_p": "p.Arg1002Leu",
"transcript": "ENST00000399451.6",
"protein_id": "ENSP00000382379.2",
"transcript_support_level": 1,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1053,
"cds_start": 3005,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399451.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.3104G>T",
"hgvs_p": "p.Arg1035Leu",
"transcript": "NM_001349277.2",
"protein_id": "NP_001336206.1",
"transcript_support_level": null,
"aa_start": 1035,
"aa_end": null,
"aa_length": 1086,
"cds_start": 3104,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349277.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.3005G>T",
"hgvs_p": "p.Arg1002Leu",
"transcript": "NM_015199.4",
"protein_id": "NP_056014.2",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1053,
"cds_start": 3005,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015199.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2996G>T",
"hgvs_p": "p.Arg999Leu",
"transcript": "NM_001349279.2",
"protein_id": "NP_001336208.1",
"transcript_support_level": null,
"aa_start": 999,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2996,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349279.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2837G>T",
"hgvs_p": "p.Arg946Leu",
"transcript": "NM_001349280.1",
"protein_id": "NP_001336209.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 997,
"cds_start": 2837,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349280.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2837G>T",
"hgvs_p": "p.Arg946Leu",
"transcript": "NM_001349281.2",
"protein_id": "NP_001336210.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 997,
"cds_start": 2837,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349281.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2837G>T",
"hgvs_p": "p.Arg946Leu",
"transcript": "NM_001349282.2",
"protein_id": "NP_001336211.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 997,
"cds_start": 2837,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349282.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2543G>T",
"hgvs_p": "p.Arg848Leu",
"transcript": "NM_001195098.1",
"protein_id": "NP_001182027.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 899,
"cds_start": 2543,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195098.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2543G>T",
"hgvs_p": "p.Arg848Leu",
"transcript": "NM_001195099.2",
"protein_id": "NP_001182028.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 899,
"cds_start": 2543,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195099.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2543G>T",
"hgvs_p": "p.Arg848Leu",
"transcript": "NM_001349283.2",
"protein_id": "NP_001336212.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 899,
"cds_start": 2543,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349283.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2543G>T",
"hgvs_p": "p.Arg848Leu",
"transcript": "ENST00000624145.3",
"protein_id": "ENSP00000485421.1",
"transcript_support_level": 2,
"aa_start": 848,
"aa_end": null,
"aa_length": 899,
"cds_start": 2543,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000624145.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.3047G>T",
"hgvs_p": "p.Arg1016Leu",
"transcript": "XM_024453418.2",
"protein_id": "XP_024309186.1",
"transcript_support_level": null,
"aa_start": 1016,
"aa_end": null,
"aa_length": 1067,
"cds_start": 3047,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453418.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.3038G>T",
"hgvs_p": "p.Arg1013Leu",
"transcript": "XM_024453419.2",
"protein_id": "XP_024309187.1",
"transcript_support_level": null,
"aa_start": 1013,
"aa_end": null,
"aa_length": 1064,
"cds_start": 3038,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453419.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2921G>T",
"hgvs_p": "p.Arg974Leu",
"transcript": "XM_011533542.4",
"protein_id": "XP_011531844.1",
"transcript_support_level": null,
"aa_start": 974,
"aa_end": null,
"aa_length": 1025,
"cds_start": 2921,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533542.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2903G>T",
"hgvs_p": "p.Arg968Leu",
"transcript": "XM_047447802.1",
"protein_id": "XP_047303758.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2903,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447802.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2894G>T",
"hgvs_p": "p.Arg965Leu",
"transcript": "XM_047447803.1",
"protein_id": "XP_047303759.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2894,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447803.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2837G>T",
"hgvs_p": "p.Arg946Leu",
"transcript": "XM_011533547.4",
"protein_id": "XP_011531849.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 997,
"cds_start": 2837,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533547.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2837G>T",
"hgvs_p": "p.Arg946Leu",
"transcript": "XM_024453422.2",
"protein_id": "XP_024309190.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 997,
"cds_start": 2837,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453422.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2837G>T",
"hgvs_p": "p.Arg946Leu",
"transcript": "XM_024453424.2",
"protein_id": "XP_024309192.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 997,
"cds_start": 2837,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453424.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2837G>T",
"hgvs_p": "p.Arg946Leu",
"transcript": "XM_047447804.1",
"protein_id": "XP_047303760.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 997,
"cds_start": 2837,
"cds_end": null,
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"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001349277.2",
"gene_symbol": "ANKRD28",
"hgnc_id": 29024,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3104G>T",
"hgvs_p": "p.Arg1035Leu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001370752.1",
"gene_symbol": "BTD",
"hgnc_id": 1122,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1015+25496C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}