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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: 3-55683836-TG-AA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=55683836&ref=TG&alt=AA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ERC2",
"hgnc_id": 31922,
"hgvs_c": "c.2870_2871delCAinsTT",
"hgvs_p": "p.Ala957Val",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_015576.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 957,
"aa_ref": "A",
"aa_start": 957,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6239,
"cdna_start": 3231,
"cds_end": null,
"cds_length": 2874,
"cds_start": 2870,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015576.3",
"gene_hgnc_id": 31922,
"gene_symbol": "ERC2",
"hgvs_c": "c.2870_2871delCAinsTT",
"hgvs_p": "p.Ala957Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000288221.11",
"protein_coding": true,
"protein_id": "NP_056391.1",
"strand": false,
"transcript": "NM_015576.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 957,
"aa_ref": "A",
"aa_start": 957,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6239,
"cdna_start": 3231,
"cds_end": null,
"cds_length": 2874,
"cds_start": 2870,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000288221.11",
"gene_hgnc_id": 31922,
"gene_symbol": "ERC2",
"hgvs_c": "c.2870_2871delCAinsTT",
"hgvs_p": "p.Ala957Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015576.3",
"protein_coding": true,
"protein_id": "ENSP00000288221.6",
"strand": false,
"transcript": "ENST00000288221.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3831,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000460849.5",
"gene_hgnc_id": 31922,
"gene_symbol": "ERC2",
"hgvs_c": "n.2870_2871delCAinsTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000417445.1",
"strand": false,
"transcript": "ENST00000460849.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 967,
"aa_ref": "A",
"aa_start": 967,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6130,
"cdna_start": 3097,
"cds_end": null,
"cds_length": 2904,
"cds_start": 2900,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940588.1",
"gene_hgnc_id": 31922,
"gene_symbol": "ERC2",
"hgvs_c": "c.2900_2901delCAinsTT",
"hgvs_p": "p.Ala967Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610647.1",
"strand": false,
"transcript": "ENST00000940588.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 965,
"aa_ref": "A",
"aa_start": 965,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6210,
"cdna_start": 3220,
"cds_end": null,
"cds_length": 2898,
"cds_start": 2894,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000492584.3",
"gene_hgnc_id": 31922,
"gene_symbol": "ERC2",
"hgvs_c": "c.2894_2895delCAinsTT",
"hgvs_p": "p.Ala965Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417280.3",
"strand": false,
"transcript": "ENST00000492584.3",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 965,
"aa_ref": "A",
"aa_start": 965,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6151,
"cdna_start": 3147,
"cds_end": null,
"cds_length": 2898,
"cds_start": 2894,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941628.1",
"gene_hgnc_id": 31922,
"gene_symbol": "ERC2",
"hgvs_c": "c.2894_2895delCAinsTT",
"hgvs_p": "p.Ala965Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611687.1",
"strand": false,
"transcript": "ENST00000941628.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 965,
"aa_ref": "A",
"aa_start": 965,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6263,
"cdna_start": 3255,
"cds_end": null,
"cds_length": 2898,
"cds_start": 2894,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447949.1",
"gene_hgnc_id": 31922,
"gene_symbol": "ERC2",
"hgvs_c": "c.2894_2895delCAinsTT",
"hgvs_p": "p.Ala965Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303905.1",
"strand": false,
"transcript": "XM_047447949.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 953,
"aa_ref": "A",
"aa_start": 953,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5033,
"cdna_start": 3219,
"cds_end": null,
"cds_length": 2862,
"cds_start": 2858,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447951.1",
"gene_hgnc_id": 31922,
"gene_symbol": "ERC2",
"hgvs_c": "c.2858_2859delCAinsTT",
"hgvs_p": "p.Ala953Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303907.1",
"strand": false,
"transcript": "XM_047447951.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 953,
"aa_ref": "A",
"aa_start": 953,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6227,
"cdna_start": 3219,
"cds_end": null,
"cds_length": 2862,
"cds_start": 2858,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447952.1",
"gene_hgnc_id": 31922,
"gene_symbol": "ERC2",
"hgvs_c": "c.2858_2859delCAinsTT",
"hgvs_p": "p.Ala953Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303908.1",
"strand": false,
"transcript": "XM_047447952.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1001,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6372,
"cdna_start": null,
"cds_end": null,
"cds_length": 3006,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447941.1",
"gene_hgnc_id": 31922,
"gene_symbol": "ERC2",
"hgvs_c": "c.2949+15541_2949+15542delCAinsTT",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303897.1",
"strand": false,
"transcript": "XM_047447941.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 986,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6417,
"cdna_start": null,
"cds_end": null,
"cds_length": 2961,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017006141.2",
"gene_hgnc_id": 31922,
"gene_symbol": "ERC2",
"hgvs_c": "c.2904+15541_2904+15542delCAinsTT",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861630.1",
"strand": false,
"transcript": "XM_017006141.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 984,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6411,
"cdna_start": null,
"cds_end": null,
"cds_length": 2955,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447942.1",
"gene_hgnc_id": 31922,
"gene_symbol": "ERC2",
"hgvs_c": "c.2898+15541_2898+15542delCAinsTT",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303898.1",
"strand": false,
"transcript": "XM_047447942.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 982,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6405,
"cdna_start": null,
"cds_end": null,
"cds_length": 2949,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447943.1",
"gene_hgnc_id": 31922,
"gene_symbol": "ERC2",
"hgvs_c": "c.2892+15541_2892+15542delCAinsTT",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303899.1",
"strand": false,
"transcript": "XM_047447943.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 979,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6396,
"cdna_start": null,
"cds_end": null,
"cds_length": 2940,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017006142.2",
"gene_hgnc_id": 31922,
"gene_symbol": "ERC2",
"hgvs_c": "c.2883+15541_2883+15542delCAinsTT",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861631.1",
"strand": false,
"transcript": "XM_017006142.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 977,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6390,
"cdna_start": null,
"cds_end": null,
"cds_length": 2934,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447944.1",
"gene_hgnc_id": 31922,
"gene_symbol": "ERC2",
"hgvs_c": "c.2877+15541_2877+15542delCAinsTT",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303900.1",
"strand": false,
"transcript": "XM_047447944.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 977,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6419,
"cdna_start": null,
"cds_end": null,
"cds_length": 2934,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447945.1",
"gene_hgnc_id": 31922,
"gene_symbol": "ERC2",
"hgvs_c": "c.2877+15541_2877+15542delCAinsTT",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303901.1",
"strand": false,
"transcript": "XM_047447945.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 975,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6413,
"cdna_start": null,
"cds_end": null,
"cds_length": 2928,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447946.1",
"gene_hgnc_id": 31922,
"gene_symbol": "ERC2",
"hgvs_c": "c.2871+15541_2871+15542delCAinsTT",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303902.1",
"strand": false,
"transcript": "XM_047447946.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 975,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6384,
"cdna_start": null,
"cds_end": null,
"cds_length": 2928,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447947.1",
"gene_hgnc_id": 31922,
"gene_symbol": "ERC2",
"hgvs_c": "c.2871+15541_2871+15542delCAinsTT",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303903.1",
"strand": false,
"transcript": "XM_047447947.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 974,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6381,
"cdna_start": null,
"cds_end": null,
"cds_length": 2925,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017006146.2",
"gene_hgnc_id": 31922,
"gene_symbol": "ERC2",
"hgvs_c": "c.2868+15541_2868+15542delCAinsTT",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861635.1",
"strand": false,
"transcript": "XM_017006146.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 970,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6369,
"cdna_start": null,
"cds_end": null,
"cds_length": 2913,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017006148.2",
"gene_hgnc_id": 31922,
"gene_symbol": "ERC2",
"hgvs_c": "c.2856+15541_2856+15542delCAinsTT",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861637.1",
"strand": false,
"transcript": "XM_017006148.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 970,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6398,
"cdna_start": null,
"cds_end": null,
"cds_length": 2913,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447948.1",
"gene_hgnc_id": 31922,
"gene_symbol": "ERC2",
"hgvs_c": "c.2856+15541_2856+15542delCAinsTT",
"hgvs_p": null,
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