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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: 4-82842199-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=82842199&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 82842199,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001400154.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.2909C>A",
"hgvs_p": "p.Pro970His",
"transcript": "NM_001077207.4",
"protein_id": "NP_001070675.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1220,
"cds_start": 2909,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 2979,
"cdna_end": null,
"cdna_length": 4298,
"mane_select": "ENST00000395310.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077207.4"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.2909C>A",
"hgvs_p": "p.Pro970His",
"transcript": "ENST00000395310.7",
"protein_id": "ENSP00000378721.2",
"transcript_support_level": 1,
"aa_start": 970,
"aa_end": null,
"aa_length": 1220,
"cds_start": 2909,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 2979,
"cdna_end": null,
"cdna_length": 4298,
"mane_select": "NM_001077207.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395310.7"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.2909C>A",
"hgvs_p": "p.Pro970His",
"transcript": "ENST00000508502.5",
"protein_id": "ENSP00000424635.1",
"transcript_support_level": 1,
"aa_start": 970,
"aa_end": null,
"aa_length": 1205,
"cds_start": 2909,
"cds_end": null,
"cds_length": 3618,
"cdna_start": 3029,
"cdna_end": null,
"cdna_length": 3801,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508502.5"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.2792C>A",
"hgvs_p": "p.Pro931His",
"transcript": "ENST00000348405.8",
"protein_id": "ENSP00000337602.5",
"transcript_support_level": 1,
"aa_start": 931,
"aa_end": null,
"aa_length": 1181,
"cds_start": 2792,
"cds_end": null,
"cds_length": 3546,
"cdna_start": 2845,
"cdna_end": null,
"cdna_length": 4012,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348405.8"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.2792C>A",
"hgvs_p": "p.Pro931His",
"transcript": "ENST00000505984.5",
"protein_id": "ENSP00000424451.1",
"transcript_support_level": 1,
"aa_start": 931,
"aa_end": null,
"aa_length": 1166,
"cds_start": 2792,
"cds_end": null,
"cds_length": 3501,
"cdna_start": 2857,
"cdna_end": null,
"cdna_length": 3596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505984.5"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.356C>A",
"hgvs_p": "p.Pro119His",
"transcript": "ENST00000503937.5",
"protein_id": "ENSP00000422371.1",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 382,
"cds_start": 356,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 1564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503937.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.2626+2187C>A",
"hgvs_p": null,
"transcript": "ENST00000311785.11",
"protein_id": "ENSP00000309070.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1106,
"cds_start": null,
"cds_end": null,
"cds_length": 3321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3909,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311785.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.2509+2187C>A",
"hgvs_p": null,
"transcript": "ENST00000513858.5",
"protein_id": "ENSP00000426886.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1067,
"cds_start": null,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3687,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513858.5"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3002C>A",
"hgvs_p": "p.Pro1001His",
"transcript": "NM_001400154.1",
"protein_id": "NP_001387083.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3002,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 3072,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400154.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3002C>A",
"hgvs_p": "p.Pro1001His",
"transcript": "NM_001400155.1",
"protein_id": "NP_001387084.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3002,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 3069,
"cdna_end": null,
"cdna_length": 4236,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400155.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3002C>A",
"hgvs_p": "p.Pro1001His",
"transcript": "ENST00000505472.5",
"protein_id": "ENSP00000421633.1",
"transcript_support_level": 5,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3002,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 3003,
"cdna_end": null,
"cdna_length": 4159,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505472.5"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3002C>A",
"hgvs_p": "p.Pro1001His",
"transcript": "NM_001400156.1",
"protein_id": "NP_001387085.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3002,
"cds_end": null,
"cds_length": 3711,
"cdna_start": 3072,
"cdna_end": null,
"cdna_length": 4194,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400156.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3002C>A",
"hgvs_p": "p.Pro1001His",
"transcript": "ENST00000854381.1",
"protein_id": "ENSP00000524440.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3002,
"cds_end": null,
"cds_length": 3711,
"cdna_start": 3072,
"cdna_end": null,
"cdna_length": 4341,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854381.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3002C>A",
"hgvs_p": "p.Pro1001His",
"transcript": "ENST00000951360.1",
"protein_id": "ENSP00000621419.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3002,
"cds_end": null,
"cds_length": 3711,
"cdna_start": 3110,
"cdna_end": null,
"cdna_length": 4232,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951360.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.2909C>A",
"hgvs_p": "p.Pro970His",
"transcript": "NM_001400157.1",
"protein_id": "NP_001387086.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1233,
"cds_start": 2909,
"cds_end": null,
"cds_length": 3702,
"cdna_start": 2976,
"cdna_end": null,
"cdna_length": 4182,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400157.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.2909C>A",
"hgvs_p": "p.Pro970His",
"transcript": "NM_001400158.1",
"protein_id": "NP_001387087.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1233,
"cds_start": 2909,
"cds_end": null,
"cds_length": 3702,
"cdna_start": 3228,
"cdna_end": null,
"cdna_length": 4434,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400158.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.2909C>A",
"hgvs_p": "p.Pro970His",
"transcript": "NM_001400159.1",
"protein_id": "NP_001387088.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1233,
"cds_start": 2909,
"cds_end": null,
"cds_length": 3702,
"cdna_start": 2979,
"cdna_end": null,
"cdna_length": 4185,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400159.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.2924C>A",
"hgvs_p": "p.Pro975His",
"transcript": "NM_001400160.1",
"protein_id": "NP_001387089.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1225,
"cds_start": 2924,
"cds_end": null,
"cds_length": 3678,
"cdna_start": 3243,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400160.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.2885C>A",
"hgvs_p": "p.Pro962His",
"transcript": "NM_001400161.1",
"protein_id": "NP_001387090.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1225,
"cds_start": 2885,
"cds_end": null,
"cds_length": 3678,
"cdna_start": 2955,
"cdna_end": null,
"cdna_length": 4161,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400161.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.2963C>A",
"hgvs_p": "p.Pro988His",
"transcript": "NM_001400162.1",
"protein_id": "NP_001387091.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1223,
"cds_start": 2963,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 3033,
"cdna_end": null,
"cdna_length": 4155,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400162.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.2909C>A",
"hgvs_p": "p.Pro970His",
"transcript": "NM_001318120.2",
"protein_id": "NP_001305049.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1220,
"cds_start": 2909,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 3318,
"cdna_end": null,
"cdna_length": 4637,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318120.2"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.2909C>A",
"hgvs_p": "p.Pro970His",
"transcript": "NM_001400164.1",
"protein_id": "NP_001387093.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1220,
"cds_start": 2909,
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"bayesdelnoaf_score": -0.27,
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"acmg_by_gene": [
{
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR,Unknown",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}