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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: 9-137619040-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137619040&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"gene_symbol": "EHMT1",
"hgnc_id": 24650,
"hgvs_c": "c.-18C>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001354259.2",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000283411",
"hgnc_id": null,
"hgvs_c": "n.91+5271C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000636318.1",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "ARRDC1-AS1",
"hgnc_id": 23395,
"hgvs_c": "n.-162G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000371417.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.49000000953674316,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1298,
"aa_ref": "A",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5095,
"cdna_start": 36,
"cds_end": null,
"cds_length": 3897,
"cds_start": 12,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_024757.5",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.12C>T",
"hgvs_p": "p.Ala4Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000460843.6",
"protein_coding": true,
"protein_id": "NP_079033.4",
"strand": true,
"transcript": "NM_024757.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1298,
"aa_ref": "A",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5095,
"cdna_start": 36,
"cds_end": null,
"cds_length": 3897,
"cds_start": 12,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000460843.6",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.12C>T",
"hgvs_p": "p.Ala4Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024757.5",
"protein_coding": true,
"protein_id": "ENSP00000417980.1",
"strand": true,
"transcript": "ENST00000460843.6",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 808,
"aa_ref": "A",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2707,
"cdna_start": 49,
"cds_end": null,
"cds_length": 2427,
"cds_start": 12,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000462484.5",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.12C>T",
"hgvs_p": "p.Ala4Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417328.1",
"strand": true,
"transcript": "ENST00000462484.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 825,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4585,
"cdna_start": null,
"cds_end": null,
"cds_length": 2478,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001354259.2",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.-18C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341188.1",
"strand": true,
"transcript": "NM_001354259.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 525,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3563,
"cdna_start": null,
"cds_end": null,
"cds_length": 1578,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001354612.2",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.-18C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341541.1",
"strand": true,
"transcript": "NM_001354612.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 136,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 709,
"cdna_start": null,
"cds_end": null,
"cds_length": 412,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000630754.2",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.-260C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485933.1",
"strand": true,
"transcript": "ENST00000630754.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 105,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 558,
"cdna_start": null,
"cds_end": null,
"cds_length": 320,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000626216.2",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.-205C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485878.1",
"strand": true,
"transcript": "ENST00000626216.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1295,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5198,
"cdna_start": null,
"cds_end": null,
"cds_length": 3888,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 28,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047423872.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.-101C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279828.1",
"strand": true,
"transcript": "XM_047423872.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1269,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5120,
"cdna_start": null,
"cds_end": null,
"cds_length": 3810,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 27,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047423875.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.-101C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279831.1",
"strand": true,
"transcript": "XM_047423875.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1267,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5031,
"cdna_start": null,
"cds_end": null,
"cds_length": 3804,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 26,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_005266110.2",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.-18C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005266167.1",
"strand": true,
"transcript": "XM_005266110.2",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1267,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5134,
"cdna_start": null,
"cds_end": null,
"cds_length": 3804,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 27,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047423878.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.-121C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279834.1",
"strand": true,
"transcript": "XM_047423878.1",
"transcript_support_level": null
},
{
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"aa_length": 1260,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5010,
"cdna_start": null,
"cds_end": null,
"cds_length": 3783,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 26,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_017015138.2",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.-18C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870627.1",
"strand": true,
"transcript": "XM_017015138.2",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1241,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4953,
"cdna_start": null,
"cds_end": null,
"cds_length": 3726,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047423881.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.-18C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279837.1",
"strand": true,
"transcript": "XM_047423881.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4932,
"cdna_start": null,
"cds_end": null,
"cds_length": 3705,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047423882.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.-18C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279838.1",
"strand": true,
"transcript": "XM_047423882.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1219,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4887,
"cdna_start": null,
"cds_end": null,
"cds_length": 3660,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047423883.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.-18C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279839.1",
"strand": true,
"transcript": "XM_047423883.1",
"transcript_support_level": null
},
{
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"aa_length": 1212,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4866,
"cdna_start": null,
"cds_end": null,
"cds_length": 3639,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047423884.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.-18C>T",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047279840.1",
"strand": true,
"transcript": "XM_047423884.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047423885.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.-18C>T",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047279841.1",
"strand": true,
"transcript": "XM_047423885.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3011,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047423886.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.-18C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279842.1",
"strand": true,
"transcript": "XM_047423886.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 889,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2990,
"cdna_start": null,
"cds_end": null,
"cds_length": 2670,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047423887.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.-18C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279843.1",
"strand": true,
"transcript": "XM_047423887.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 870,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2933,
"cdna_start": null,
"cds_end": null,
"cds_length": 2613,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047423888.1",
"gene_hgnc_id": 24650,
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