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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: 4-25765387-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=25765387&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SEL1L3",
"hgnc_id": 29108,
"hgvs_c": "c.2894C>T",
"hgvs_p": "p.Ser965Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_015187.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.113,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.26,
"chr": "4",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2555668354034424,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "S",
"aa_start": 965,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4543,
"cdna_start": 3046,
"cds_end": null,
"cds_length": 3399,
"cds_start": 2894,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_015187.5",
"gene_hgnc_id": 29108,
"gene_symbol": "SEL1L3",
"hgvs_c": "c.2894C>T",
"hgvs_p": "p.Ser965Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000399878.8",
"protein_coding": true,
"protein_id": "NP_056002.2",
"strand": false,
"transcript": "NM_015187.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "S",
"aa_start": 965,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4543,
"cdna_start": 3046,
"cds_end": null,
"cds_length": 3399,
"cds_start": 2894,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000399878.8",
"gene_hgnc_id": 29108,
"gene_symbol": "SEL1L3",
"hgvs_c": "c.2894C>T",
"hgvs_p": "p.Ser965Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015187.5",
"protein_coding": true,
"protein_id": "ENSP00000382767.3",
"strand": false,
"transcript": "ENST00000399878.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1097,
"aa_ref": "S",
"aa_start": 930,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4369,
"cdna_start": 2872,
"cds_end": null,
"cds_length": 3294,
"cds_start": 2789,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000264868.9",
"gene_hgnc_id": 29108,
"gene_symbol": "SEL1L3",
"hgvs_c": "c.2789C>T",
"hgvs_p": "p.Ser930Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000264868.5",
"strand": false,
"transcript": "ENST00000264868.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1167,
"aa_ref": "S",
"aa_start": 1000,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4708,
"cdna_start": 3211,
"cds_end": null,
"cds_length": 3504,
"cds_start": 2999,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000929301.1",
"gene_hgnc_id": 29108,
"gene_symbol": "SEL1L3",
"hgvs_c": "c.2999C>T",
"hgvs_p": "p.Ser1000Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599360.1",
"strand": false,
"transcript": "ENST00000929301.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1111,
"aa_ref": "S",
"aa_start": 944,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4341,
"cdna_start": 2844,
"cds_end": null,
"cds_length": 3336,
"cds_start": 2831,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000929305.1",
"gene_hgnc_id": 29108,
"gene_symbol": "SEL1L3",
"hgvs_c": "c.2831C>T",
"hgvs_p": "p.Ser944Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599364.1",
"strand": false,
"transcript": "ENST00000929305.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1104,
"aa_ref": "S",
"aa_start": 937,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4456,
"cdna_start": 2959,
"cds_end": null,
"cds_length": 3315,
"cds_start": 2810,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000929304.1",
"gene_hgnc_id": 29108,
"gene_symbol": "SEL1L3",
"hgvs_c": "c.2810C>T",
"hgvs_p": "p.Ser937Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599363.1",
"strand": false,
"transcript": "ENST00000929304.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1097,
"aa_ref": "S",
"aa_start": 930,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4340,
"cdna_start": 2843,
"cds_end": null,
"cds_length": 3294,
"cds_start": 2789,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001297592.2",
"gene_hgnc_id": 29108,
"gene_symbol": "SEL1L3",
"hgvs_c": "c.2789C>T",
"hgvs_p": "p.Ser930Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001284521.1",
"strand": false,
"transcript": "NM_001297592.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1094,
"aa_ref": "S",
"aa_start": 965,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4276,
"cdna_start": 2896,
"cds_end": null,
"cds_length": 3285,
"cds_start": 2894,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000960872.1",
"gene_hgnc_id": 29108,
"gene_symbol": "SEL1L3",
"hgvs_c": "c.2894C>T",
"hgvs_p": "p.Ser965Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630931.1",
"strand": false,
"transcript": "ENST00000960872.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1072,
"aa_ref": "S",
"aa_start": 905,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4352,
"cdna_start": 2856,
"cds_end": null,
"cds_length": 3219,
"cds_start": 2714,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000960871.1",
"gene_hgnc_id": 29108,
"gene_symbol": "SEL1L3",
"hgvs_c": "c.2714C>T",
"hgvs_p": "p.Ser905Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630930.1",
"strand": false,
"transcript": "ENST00000960871.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "S",
"aa_start": 901,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3351,
"cdna_start": 2736,
"cds_end": null,
"cds_length": 3207,
"cds_start": 2702,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000889111.1",
"gene_hgnc_id": 29108,
"gene_symbol": "SEL1L3",
"hgvs_c": "c.2702C>T",
"hgvs_p": "p.Ser901Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559170.1",
"strand": false,
"transcript": "ENST00000889111.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1049,
"aa_ref": "S",
"aa_start": 882,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4292,
"cdna_start": 2795,
"cds_end": null,
"cds_length": 3150,
"cds_start": 2645,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000929303.1",
"gene_hgnc_id": 29108,
"gene_symbol": "SEL1L3",
"hgvs_c": "c.2645C>T",
"hgvs_p": "p.Ser882Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599362.1",
"strand": false,
"transcript": "ENST00000929303.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1031,
"aa_ref": "S",
"aa_start": 864,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4091,
"cdna_start": 2594,
"cds_end": null,
"cds_length": 3096,
"cds_start": 2591,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000889110.1",
"gene_hgnc_id": 29108,
"gene_symbol": "SEL1L3",
"hgvs_c": "c.2591C>T",
"hgvs_p": "p.Ser864Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559169.1",
"strand": false,
"transcript": "ENST00000889110.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 989,
"aa_ref": "S",
"aa_start": 822,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4126,
"cdna_start": 2635,
"cds_end": null,
"cds_length": 2970,
"cds_start": 2465,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000929302.1",
"gene_hgnc_id": 29108,
"gene_symbol": "SEL1L3",
"hgvs_c": "c.2465C>T",
"hgvs_p": "p.Ser822Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599361.1",
"strand": false,
"transcript": "ENST00000929302.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 979,
"aa_ref": "S",
"aa_start": 812,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4362,
"cdna_start": 2865,
"cds_end": null,
"cds_length": 2940,
"cds_start": 2435,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001297594.2",
"gene_hgnc_id": 29108,
"gene_symbol": "SEL1L3",
"hgvs_c": "c.2435C>T",
"hgvs_p": "p.Ser812Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001284523.1",
"strand": false,
"transcript": "NM_001297594.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 979,
"aa_ref": "S",
"aa_start": 812,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3500,
"cdna_start": 2836,
"cds_end": null,
"cds_length": 2940,
"cds_start": 2435,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000502949.5",
"gene_hgnc_id": 29108,
"gene_symbol": "SEL1L3",
"hgvs_c": "c.2435C>T",
"hgvs_p": "p.Ser812Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425438.1",
"strand": false,
"transcript": "ENST00000502949.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 855,
"aa_ref": "S",
"aa_start": 688,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2690,
"cdna_start": 2066,
"cds_end": null,
"cds_length": 2568,
"cds_start": 2063,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000889112.1",
"gene_hgnc_id": 29108,
"gene_symbol": "SEL1L3",
"hgvs_c": "c.2063C>T",
"hgvs_p": "p.Ser688Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559171.1",
"strand": false,
"transcript": "ENST00000889112.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 130,
"aa_ref": "S",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 429,
"cdna_start": 167,
"cds_end": null,
"cds_length": 393,
"cds_start": 167,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000507618.1",
"gene_hgnc_id": 29108,
"gene_symbol": "SEL1L3",
"hgvs_c": "c.167C>T",
"hgvs_p": "p.Ser56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426050.1",
"strand": false,
"transcript": "ENST00000507618.1",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "S",
"aa_start": 965,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4380,
"cdna_start": 3046,
"cds_end": null,
"cds_length": 3312,
"cds_start": 2894,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011513819.3",
"gene_hgnc_id": 29108,
"gene_symbol": "SEL1L3",
"hgvs_c": "c.2894C>T",
"hgvs_p": "p.Ser965Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512121.2",
"strand": false,
"transcript": "XM_011513819.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 950,
"aa_ref": "S",
"aa_start": 812,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4199,
"cdna_start": 2865,
"cds_end": null,
"cds_length": 2853,
"cds_start": 2435,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_024453953.2",
"gene_hgnc_id": 29108,
"gene_symbol": "SEL1L3",
"hgvs_c": "c.2435C>T",
"hgvs_p": "p.Ser812Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024309721.1",
"strand": false,
"transcript": "XM_024453953.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 800,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3557,
"cdna_start": null,
"cds_end": null,
"cds_length": 2403,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960870.1",
"gene_hgnc_id": 29108,
"gene_symbol": "SEL1L3",
"hgvs_c": "c.2293-16852C>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630929.1",
"strand": false,
"transcript": "ENST00000960870.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6719,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 25,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XR_001741182.3",
"gene_hgnc_id": 29108,
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]
}