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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: 19-11345581-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11345581&ref=C&alt=T&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": "TMEM205",
"hgnc_id": 29631,
"hgvs_c": "c.39G>A",
"hgvs_p": "p.Met13Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_033408.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "RAB3D",
"hgnc_id": 9779,
"hgvs_c": "c.-62+546G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000589655.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CCDC159",
"hgnc_id": 26996,
"hgvs_c": "n.263+200C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000587100.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.1374,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.62,
"chr": "19",
"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": 0.12995707988739014,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 189,
"aa_ref": "M",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1256,
"cdna_start": 688,
"cds_end": null,
"cds_length": 570,
"cds_start": 39,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_198536.3",
"gene_hgnc_id": 29631,
"gene_symbol": "TMEM205",
"hgvs_c": "c.39G>A",
"hgvs_p": "p.Met13Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000354882.10",
"protein_coding": true,
"protein_id": "NP_940938.1",
"strand": false,
"transcript": "NM_198536.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 189,
"aa_ref": "M",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1256,
"cdna_start": 688,
"cds_end": null,
"cds_length": 570,
"cds_start": 39,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000354882.10",
"gene_hgnc_id": 29631,
"gene_symbol": "TMEM205",
"hgvs_c": "c.39G>A",
"hgvs_p": "p.Met13Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_198536.3",
"protein_coding": true,
"protein_id": "ENSP00000346954.4",
"strand": false,
"transcript": "ENST00000354882.10",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 189,
"aa_ref": "M",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 792,
"cdna_start": 222,
"cds_end": null,
"cds_length": 570,
"cds_start": 39,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000593256.6",
"gene_hgnc_id": 29631,
"gene_symbol": "TMEM205",
"hgvs_c": "c.39G>A",
"hgvs_p": "p.Met13Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468733.1",
"strand": false,
"transcript": "ENST00000593256.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 189,
"aa_ref": "M",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 758,
"cdna_start": 190,
"cds_end": null,
"cds_length": 570,
"cds_start": 39,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001145416.2",
"gene_hgnc_id": 29631,
"gene_symbol": "TMEM205",
"hgvs_c": "c.39G>A",
"hgvs_p": "p.Met13Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138888.1",
"strand": false,
"transcript": "NM_001145416.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 189,
"aa_ref": "M",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 867,
"cdna_start": 299,
"cds_end": null,
"cds_length": 570,
"cds_start": 39,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001321112.2",
"gene_hgnc_id": 29631,
"gene_symbol": "TMEM205",
"hgvs_c": "c.39G>A",
"hgvs_p": "p.Met13Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308041.1",
"strand": false,
"transcript": "NM_001321112.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 189,
"aa_ref": "M",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 677,
"cdna_start": 109,
"cds_end": null,
"cds_length": 570,
"cds_start": 39,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001321113.2",
"gene_hgnc_id": 29631,
"gene_symbol": "TMEM205",
"hgvs_c": "c.39G>A",
"hgvs_p": "p.Met13Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308042.1",
"strand": false,
"transcript": "NM_001321113.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 189,
"aa_ref": "M",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 786,
"cdna_start": 218,
"cds_end": null,
"cds_length": 570,
"cds_start": 39,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001321114.2",
"gene_hgnc_id": 29631,
"gene_symbol": "TMEM205",
"hgvs_c": "c.39G>A",
"hgvs_p": "p.Met13Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308043.1",
"strand": false,
"transcript": "NM_001321114.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 189,
"aa_ref": "M",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 877,
"cdna_start": 309,
"cds_end": null,
"cds_length": 570,
"cds_start": 39,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_033408.4",
"gene_hgnc_id": 29631,
"gene_symbol": "TMEM205",
"hgvs_c": "c.39G>A",
"hgvs_p": "p.Met13Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_212133.1",
"strand": false,
"transcript": "NM_033408.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 189,
"aa_ref": "M",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 916,
"cdna_start": 346,
"cds_end": null,
"cds_length": 570,
"cds_start": 39,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000447337.5",
"gene_hgnc_id": 29631,
"gene_symbol": "TMEM205",
"hgvs_c": "c.39G>A",
"hgvs_p": "p.Met13Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398258.1",
"strand": false,
"transcript": "ENST00000447337.5",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 189,
"aa_ref": "M",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 677,
"cdna_start": 109,
"cds_end": null,
"cds_length": 570,
"cds_start": 39,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000586590.5",
"gene_hgnc_id": 29631,
"gene_symbol": "TMEM205",
"hgvs_c": "c.39G>A",
"hgvs_p": "p.Met13Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466986.1",
"strand": false,
"transcript": "ENST00000586590.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 189,
"aa_ref": "M",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1003,
"cdna_start": 435,
"cds_end": null,
"cds_length": 570,
"cds_start": 39,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000586956.5",
"gene_hgnc_id": 29631,
"gene_symbol": "TMEM205",
"hgvs_c": "c.39G>A",
"hgvs_p": "p.Met13Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465483.1",
"strand": false,
"transcript": "ENST00000586956.5",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 189,
"aa_ref": "M",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 688,
"cdna_start": 121,
"cds_end": null,
"cds_length": 570,
"cds_start": 39,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000587948.5",
"gene_hgnc_id": 29631,
"gene_symbol": "TMEM205",
"hgvs_c": "c.39G>A",
"hgvs_p": "p.Met13Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465149.1",
"strand": false,
"transcript": "ENST00000587948.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 189,
"aa_ref": "M",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 840,
"cdna_start": 279,
"cds_end": null,
"cds_length": 570,
"cds_start": 39,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000588560.5",
"gene_hgnc_id": 29631,
"gene_symbol": "TMEM205",
"hgvs_c": "c.39G>A",
"hgvs_p": "p.Met13Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466495.1",
"strand": false,
"transcript": "ENST00000588560.5",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 189,
"aa_ref": "M",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 788,
"cdna_start": 221,
"cds_end": null,
"cds_length": 570,
"cds_start": 39,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000589555.5",
"gene_hgnc_id": 29631,
"gene_symbol": "TMEM205",
"hgvs_c": "c.39G>A",
"hgvs_p": "p.Met13Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465553.1",
"strand": false,
"transcript": "ENST00000589555.5",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 189,
"aa_ref": "M",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 908,
"cdna_start": 340,
"cds_end": null,
"cds_length": 570,
"cds_start": 39,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000853514.1",
"gene_hgnc_id": 29631,
"gene_symbol": "TMEM205",
"hgvs_c": "c.39G>A",
"hgvs_p": "p.Met13Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523573.1",
"strand": false,
"transcript": "ENST00000853514.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 169,
"aa_ref": "M",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 619,
"cdna_start": 146,
"cds_end": null,
"cds_length": 512,
"cds_start": 39,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000590482.5",
"gene_hgnc_id": 29631,
"gene_symbol": "TMEM205",
"hgvs_c": "c.39G>A",
"hgvs_p": "p.Met13Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466180.1",
"strand": false,
"transcript": "ENST00000590482.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 122,
"aa_ref": "M",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 428,
"cdna_start": 96,
"cds_end": null,
"cds_length": 371,
"cds_start": 39,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000592952.5",
"gene_hgnc_id": 29631,
"gene_symbol": "TMEM205",
"hgvs_c": "c.39G>A",
"hgvs_p": "p.Met13Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466672.1",
"strand": false,
"transcript": "ENST00000592952.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 106,
"aa_ref": "M",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 628,
"cdna_start": 346,
"cds_end": null,
"cds_length": 321,
"cds_start": 39,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000591677.5",
"gene_hgnc_id": 29631,
"gene_symbol": "TMEM205",
"hgvs_c": "c.39G>A",
"hgvs_p": "p.Met13Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465283.1",
"strand": false,
"transcript": "ENST00000591677.5",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 87,
"aa_ref": "M",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 393,
"cdna_start": 168,
"cds_end": null,
"cds_length": 264,
"cds_start": 39,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000590788.1",
"gene_hgnc_id": 29631,
"gene_symbol": "TMEM205",
"hgvs_c": "c.39G>A",
"hgvs_p": "p.Met13Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468056.1",
"strand": false,
"transcript": "ENST00000590788.1",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 189,
"aa_ref": "M",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 986,
"cdna_start": 418,
"cds_end": null,
"cds_length": 570,
"cds_start": 39,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_005259899.3",
"gene_hgnc_id": 29631,
"gene_symbol": "TMEM205",
"hgvs_c": "c.39G>A",
"hgvs_p": "p.Met13Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005259956.1",
"strand": false,
"transcript": "XM_005259899.3",
"transcript_support_level": null
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