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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: 22-31441908-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=31441908&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 31441908,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_019843.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.2417G>T",
"hgvs_p": "p.Arg806Leu",
"transcript": "NM_019843.4",
"protein_id": "NP_062817.2",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 985,
"cds_start": 2417,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000330125.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019843.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.2417G>T",
"hgvs_p": "p.Arg806Leu",
"transcript": "ENST00000330125.10",
"protein_id": "ENSP00000328103.5",
"transcript_support_level": 1,
"aa_start": 806,
"aa_end": null,
"aa_length": 985,
"cds_start": 2417,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019843.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330125.10"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.2417G>T",
"hgvs_p": "p.Arg806Leu",
"transcript": "ENST00000397525.5",
"protein_id": "ENSP00000380659.1",
"transcript_support_level": 1,
"aa_start": 806,
"aa_end": null,
"aa_length": 985,
"cds_start": 2417,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397525.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.1895G>T",
"hgvs_p": "p.Arg632Leu",
"transcript": "ENST00000344710.9",
"protein_id": "ENSP00000342927.5",
"transcript_support_level": 1,
"aa_start": 632,
"aa_end": null,
"aa_length": 811,
"cds_start": 1895,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344710.9"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.2420G>T",
"hgvs_p": "p.Arg807Leu",
"transcript": "ENST00000892292.1",
"protein_id": "ENSP00000562351.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 986,
"cds_start": 2420,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892292.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.2420G>T",
"hgvs_p": "p.Arg807Leu",
"transcript": "ENST00000927349.1",
"protein_id": "ENSP00000597408.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 986,
"cds_start": 2420,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927349.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.2420G>T",
"hgvs_p": "p.Arg807Leu",
"transcript": "ENST00000972526.1",
"protein_id": "ENSP00000642585.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 986,
"cds_start": 2420,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972526.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.2420G>T",
"hgvs_p": "p.Arg807Leu",
"transcript": "ENST00000972527.1",
"protein_id": "ENSP00000642586.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 986,
"cds_start": 2420,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972527.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.2417G>T",
"hgvs_p": "p.Arg806Leu",
"transcript": "NM_001164501.2",
"protein_id": "NP_001157973.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 985,
"cds_start": 2417,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164501.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.2417G>T",
"hgvs_p": "p.Arg806Leu",
"transcript": "ENST00000892291.1",
"protein_id": "ENSP00000562350.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 985,
"cds_start": 2417,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892291.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.2417G>T",
"hgvs_p": "p.Arg806Leu",
"transcript": "ENST00000892293.1",
"protein_id": "ENSP00000562352.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 985,
"cds_start": 2417,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892293.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.2417G>T",
"hgvs_p": "p.Arg806Leu",
"transcript": "ENST00000892299.1",
"protein_id": "ENSP00000562358.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 985,
"cds_start": 2417,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892299.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.2417G>T",
"hgvs_p": "p.Arg806Leu",
"transcript": "ENST00000892302.1",
"protein_id": "ENSP00000562361.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 985,
"cds_start": 2417,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892302.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.2417G>T",
"hgvs_p": "p.Arg806Leu",
"transcript": "ENST00000927347.1",
"protein_id": "ENSP00000597406.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 985,
"cds_start": 2417,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927347.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.2408G>T",
"hgvs_p": "p.Arg803Leu",
"transcript": "ENST00000927346.1",
"protein_id": "ENSP00000597405.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 982,
"cds_start": 2408,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927346.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.2396G>T",
"hgvs_p": "p.Arg799Leu",
"transcript": "ENST00000892296.1",
"protein_id": "ENSP00000562355.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 978,
"cds_start": 2396,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892296.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.2393G>T",
"hgvs_p": "p.Arg798Leu",
"transcript": "ENST00000892301.1",
"protein_id": "ENSP00000562360.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 977,
"cds_start": 2393,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892301.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.2384G>T",
"hgvs_p": "p.Arg795Leu",
"transcript": "ENST00000927348.1",
"protein_id": "ENSP00000597407.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 974,
"cds_start": 2384,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927348.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.2384G>T",
"hgvs_p": "p.Arg795Leu",
"transcript": "ENST00000972530.1",
"protein_id": "ENSP00000642589.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 974,
"cds_start": 2384,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972530.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.2381G>T",
"hgvs_p": "p.Arg794Leu",
"transcript": "ENST00000892297.1",
"protein_id": "ENSP00000562356.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 973,
"cds_start": 2381,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892297.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.2381G>T",
"hgvs_p": "p.Arg794Leu",
"transcript": "ENST00000972529.1",
"protein_id": "ENSP00000642588.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 973,
"cds_start": 2381,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972529.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4ENIF1",
"gene_hgnc_id": 16687,
"hgvs_c": "c.2348G>T",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_019843.4",
"gene_symbol": "EIF4ENIF1",
"hgnc_id": 16687,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2417G>T",
"hgvs_p": "p.Arg806Leu"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000548143.1",
"gene_symbol": "DRG1",
"hgnc_id": 3029,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.164+14726C>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
}