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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: 3-129670439-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=129670439&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 129670439,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001017395.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCC1",
"gene_hgnc_id": 29116,
"hgvs_c": "c.1402G>C",
"hgvs_p": "p.Glu468Gln",
"transcript": "NM_001017395.5",
"protein_id": "NP_001017395.2",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 653,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393238.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001017395.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCC1",
"gene_hgnc_id": 29116,
"hgvs_c": "c.1402G>C",
"hgvs_p": "p.Glu468Gln",
"transcript": "ENST00000393238.8",
"protein_id": "ENSP00000376930.3",
"transcript_support_level": 1,
"aa_start": 468,
"aa_end": null,
"aa_length": 653,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001017395.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393238.8"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCC1",
"gene_hgnc_id": 29116,
"hgvs_c": "c.430G>C",
"hgvs_p": "p.Glu144Gln",
"transcript": "ENST00000432054.6",
"protein_id": "ENSP00000404711.2",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 329,
"cds_start": 430,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432054.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCC1",
"gene_hgnc_id": 29116,
"hgvs_c": "c.1402G>C",
"hgvs_p": "p.Glu468Gln",
"transcript": "NM_001349263.2",
"protein_id": "NP_001336192.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 653,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349263.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCC1",
"gene_hgnc_id": 29116,
"hgvs_c": "c.1402G>C",
"hgvs_p": "p.Glu468Gln",
"transcript": "NM_001349264.2",
"protein_id": "NP_001336193.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 653,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349264.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCC1",
"gene_hgnc_id": 29116,
"hgvs_c": "c.1402G>C",
"hgvs_p": "p.Glu468Gln",
"transcript": "NM_001349265.2",
"protein_id": "NP_001336194.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 653,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349265.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCC1",
"gene_hgnc_id": 29116,
"hgvs_c": "c.1402G>C",
"hgvs_p": "p.Glu468Gln",
"transcript": "NM_001349266.2",
"protein_id": "NP_001336195.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 653,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349266.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCC1",
"gene_hgnc_id": 29116,
"hgvs_c": "c.1402G>C",
"hgvs_p": "p.Glu468Gln",
"transcript": "NM_001349268.2",
"protein_id": "NP_001336197.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 653,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349268.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCC1",
"gene_hgnc_id": 29116,
"hgvs_c": "c.1402G>C",
"hgvs_p": "p.Glu468Gln",
"transcript": "ENST00000858270.1",
"protein_id": "ENSP00000528329.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 653,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858270.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCC1",
"gene_hgnc_id": 29116,
"hgvs_c": "c.1402G>C",
"hgvs_p": "p.Glu468Gln",
"transcript": "ENST00000858271.1",
"protein_id": "ENSP00000528330.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 653,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858271.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCC1",
"gene_hgnc_id": 29116,
"hgvs_c": "c.1402G>C",
"hgvs_p": "p.Glu468Gln",
"transcript": "ENST00000858272.1",
"protein_id": "ENSP00000528331.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 653,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858272.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCC1",
"gene_hgnc_id": 29116,
"hgvs_c": "c.1402G>C",
"hgvs_p": "p.Glu468Gln",
"transcript": "ENST00000858273.1",
"protein_id": "ENSP00000528332.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 653,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858273.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCC1",
"gene_hgnc_id": 29116,
"hgvs_c": "c.1402G>C",
"hgvs_p": "p.Glu468Gln",
"transcript": "ENST00000858274.1",
"protein_id": "ENSP00000528333.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 653,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858274.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCC1",
"gene_hgnc_id": 29116,
"hgvs_c": "c.1402G>C",
"hgvs_p": "p.Glu468Gln",
"transcript": "ENST00000858275.1",
"protein_id": "ENSP00000528334.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 653,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858275.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCC1",
"gene_hgnc_id": 29116,
"hgvs_c": "c.1402G>C",
"hgvs_p": "p.Glu468Gln",
"transcript": "ENST00000858276.1",
"protein_id": "ENSP00000528335.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 653,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858276.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCC1",
"gene_hgnc_id": 29116,
"hgvs_c": "c.1402G>C",
"hgvs_p": "p.Glu468Gln",
"transcript": "ENST00000915954.1",
"protein_id": "ENSP00000586013.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 653,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915954.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCC1",
"gene_hgnc_id": 29116,
"hgvs_c": "c.1402G>C",
"hgvs_p": "p.Glu468Gln",
"transcript": "ENST00000915955.1",
"protein_id": "ENSP00000586014.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 653,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915955.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCC1",
"gene_hgnc_id": 29116,
"hgvs_c": "c.1402G>C",
"hgvs_p": "p.Glu468Gln",
"transcript": "ENST00000915956.1",
"protein_id": "ENSP00000586015.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 653,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915956.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCC1",
"gene_hgnc_id": 29116,
"hgvs_c": "c.1402G>C",
"hgvs_p": "p.Glu468Gln",
"transcript": "ENST00000915957.1",
"protein_id": "ENSP00000586016.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 653,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915957.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCC1",
"gene_hgnc_id": 29116,
"hgvs_c": "c.1402G>C",
"hgvs_p": "p.Glu468Gln",
"transcript": "ENST00000915958.1",
"protein_id": "ENSP00000586017.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 653,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915958.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCC1",
"gene_hgnc_id": 29116,
"hgvs_c": "c.1402G>C",
"hgvs_p": "p.Glu468Gln",
"transcript": "ENST00000915959.1",
"protein_id": "ENSP00000586018.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 653,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915959.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCC1",
"gene_hgnc_id": 29116,
"hgvs_c": "c.1402G>C",
"hgvs_p": "p.Glu468Gln",
"transcript": "ENST00000915960.1",
"protein_id": "ENSP00000586019.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 653,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"splice_prediction_selected": "Benign",
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{
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"PP3"
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"verdict": "Uncertain_significance",
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"inheritance_mode": "",
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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
}