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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: 2-96861051-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=96861051&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"PVS1_Strong",
"BA1"
],
"effects": [
"stop_gained"
],
"gene_symbol": "SEMA4C",
"hgnc_id": 10731,
"hgvs_c": "c.2077G>T",
"hgvs_p": "p.Glu693*",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": -4,
"transcript": "NM_017789.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PVS1_Strong,BA1",
"acmg_score": -4,
"allele_count_reference_population": 11196,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.57,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5699999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 833,
"aa_ref": "E",
"aa_start": 693,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3652,
"cdna_start": 2319,
"cds_end": null,
"cds_length": 2502,
"cds_start": 2077,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_017789.5",
"gene_hgnc_id": 10731,
"gene_symbol": "SEMA4C",
"hgvs_c": "c.2077G>T",
"hgvs_p": "p.Glu693*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000305476.10",
"protein_coding": true,
"protein_id": "NP_060259.4",
"strand": false,
"transcript": "NM_017789.5",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 833,
"aa_ref": "E",
"aa_start": 693,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3652,
"cdna_start": 2319,
"cds_end": null,
"cds_length": 2502,
"cds_start": 2077,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000305476.10",
"gene_hgnc_id": 10731,
"gene_symbol": "SEMA4C",
"hgvs_c": "c.2077G>T",
"hgvs_p": "p.Glu693*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017789.5",
"protein_coding": true,
"protein_id": "ENSP00000306844.5",
"strand": false,
"transcript": "ENST00000305476.10",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 840,
"aa_ref": "E",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3660,
"cdna_start": 2357,
"cds_end": null,
"cds_length": 2523,
"cds_start": 2098,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000897292.1",
"gene_hgnc_id": 10731,
"gene_symbol": "SEMA4C",
"hgvs_c": "c.2098G>T",
"hgvs_p": "p.Glu700*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567351.1",
"strand": false,
"transcript": "ENST00000897292.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 834,
"aa_ref": "E",
"aa_start": 694,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4099,
"cdna_start": 2801,
"cds_end": null,
"cds_length": 2505,
"cds_start": 2080,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000897277.1",
"gene_hgnc_id": 10731,
"gene_symbol": "SEMA4C",
"hgvs_c": "c.2080G>T",
"hgvs_p": "p.Glu694*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567336.1",
"strand": false,
"transcript": "ENST00000897277.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 834,
"aa_ref": "E",
"aa_start": 694,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3602,
"cdna_start": 2290,
"cds_end": null,
"cds_length": 2505,
"cds_start": 2080,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000914319.1",
"gene_hgnc_id": 10731,
"gene_symbol": "SEMA4C",
"hgvs_c": "c.2080G>T",
"hgvs_p": "p.Glu694*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584378.1",
"strand": false,
"transcript": "ENST00000914319.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 833,
"aa_ref": "E",
"aa_start": 693,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3694,
"cdna_start": 2382,
"cds_end": null,
"cds_length": 2502,
"cds_start": 2077,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000897274.1",
"gene_hgnc_id": 10731,
"gene_symbol": "SEMA4C",
"hgvs_c": "c.2077G>T",
"hgvs_p": "p.Glu693*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567333.1",
"strand": false,
"transcript": "ENST00000897274.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 833,
"aa_ref": "E",
"aa_start": 693,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3509,
"cdna_start": 2197,
"cds_end": null,
"cds_length": 2502,
"cds_start": 2077,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000897280.1",
"gene_hgnc_id": 10731,
"gene_symbol": "SEMA4C",
"hgvs_c": "c.2077G>T",
"hgvs_p": "p.Glu693*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567339.1",
"strand": false,
"transcript": "ENST00000897280.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 833,
"aa_ref": "E",
"aa_start": 693,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3557,
"cdna_start": 2240,
"cds_end": null,
"cds_length": 2502,
"cds_start": 2077,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000897281.1",
"gene_hgnc_id": 10731,
"gene_symbol": "SEMA4C",
"hgvs_c": "c.2077G>T",
"hgvs_p": "p.Glu693*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567340.1",
"strand": false,
"transcript": "ENST00000897281.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 833,
"aa_ref": "E",
"aa_start": 693,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4117,
"cdna_start": 2801,
"cds_end": null,
"cds_length": 2502,
"cds_start": 2077,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000897283.1",
"gene_hgnc_id": 10731,
"gene_symbol": "SEMA4C",
"hgvs_c": "c.2077G>T",
"hgvs_p": "p.Glu693*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567342.1",
"strand": false,
"transcript": "ENST00000897283.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 833,
"aa_ref": "E",
"aa_start": 693,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4071,
"cdna_start": 2740,
"cds_end": null,
"cds_length": 2502,
"cds_start": 2077,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000897284.1",
"gene_hgnc_id": 10731,
"gene_symbol": "SEMA4C",
"hgvs_c": "c.2077G>T",
"hgvs_p": "p.Glu693*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567343.1",
"strand": false,
"transcript": "ENST00000897284.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 833,
"aa_ref": "E",
"aa_start": 693,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3763,
"cdna_start": 2456,
"cds_end": null,
"cds_length": 2502,
"cds_start": 2077,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000897287.1",
"gene_hgnc_id": 10731,
"gene_symbol": "SEMA4C",
"hgvs_c": "c.2077G>T",
"hgvs_p": "p.Glu693*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567346.1",
"strand": false,
"transcript": "ENST00000897287.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 833,
"aa_ref": "E",
"aa_start": 693,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3721,
"cdna_start": 2420,
"cds_end": null,
"cds_length": 2502,
"cds_start": 2077,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000897289.1",
"gene_hgnc_id": 10731,
"gene_symbol": "SEMA4C",
"hgvs_c": "c.2077G>T",
"hgvs_p": "p.Glu693*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567348.1",
"strand": false,
"transcript": "ENST00000897289.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 833,
"aa_ref": "E",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3624,
"cdna_start": 2323,
"cds_end": null,
"cds_length": 2502,
"cds_start": 2077,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000897291.1",
"gene_hgnc_id": 10731,
"gene_symbol": "SEMA4C",
"hgvs_c": "c.2077G>T",
"hgvs_p": "p.Glu693*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567350.1",
"strand": false,
"transcript": "ENST00000897291.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 833,
"aa_ref": "E",
"aa_start": 693,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4224,
"cdna_start": 2914,
"cds_end": null,
"cds_length": 2502,
"cds_start": 2077,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000897294.1",
"gene_hgnc_id": 10731,
"gene_symbol": "SEMA4C",
"hgvs_c": "c.2077G>T",
"hgvs_p": "p.Glu693*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567353.1",
"strand": false,
"transcript": "ENST00000897294.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
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"aa_length": 833,
"aa_ref": "E",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3803,
"cdna_start": 2488,
"cds_end": null,
"cds_length": 2502,
"cds_start": 2077,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000897295.1",
"gene_hgnc_id": 10731,
"gene_symbol": "SEMA4C",
"hgvs_c": "c.2077G>T",
"hgvs_p": "p.Glu693*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567354.1",
"strand": false,
"transcript": "ENST00000897295.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 833,
"aa_ref": "E",
"aa_start": 693,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4093,
"cdna_start": 2781,
"cds_end": null,
"cds_length": 2502,
"cds_start": 2077,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000897296.1",
"gene_hgnc_id": 10731,
"gene_symbol": "SEMA4C",
"hgvs_c": "c.2077G>T",
"hgvs_p": "p.Glu693*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567355.1",
"strand": false,
"transcript": "ENST00000897296.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 833,
"aa_ref": "E",
"aa_start": 693,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3762,
"cdna_start": 2450,
"cds_end": null,
"cds_length": 2502,
"cds_start": 2077,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000897297.1",
"gene_hgnc_id": 10731,
"gene_symbol": "SEMA4C",
"hgvs_c": "c.2077G>T",
"hgvs_p": "p.Glu693*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567356.1",
"strand": false,
"transcript": "ENST00000897297.1",
"transcript_support_level": null
},
{
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"aa_length": 833,
"aa_ref": "E",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3870,
"cdna_start": 2558,
"cds_end": null,
"cds_length": 2502,
"cds_start": 2077,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000914305.1",
"gene_hgnc_id": 10731,
"gene_symbol": "SEMA4C",
"hgvs_c": "c.2077G>T",
"hgvs_p": "p.Glu693*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584364.1",
"strand": false,
"transcript": "ENST00000914305.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
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"aa_length": 833,
"aa_ref": "E",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4196,
"cdna_start": 2893,
"cds_end": null,
"cds_length": 2502,
"cds_start": 2077,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000914316.1",
"gene_hgnc_id": 10731,
"gene_symbol": "SEMA4C",
"hgvs_c": "c.2077G>T",
"hgvs_p": "p.Glu693*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584375.1",
"strand": false,
"transcript": "ENST00000914316.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 833,
"aa_ref": "E",
"aa_start": 693,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3632,
"cdna_start": 2317,
"cds_end": null,
"cds_length": 2502,
"cds_start": 2077,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000914318.1",
"gene_hgnc_id": 10731,
"gene_symbol": "SEMA4C",
"hgvs_c": "c.2077G>T",
"hgvs_p": "p.Glu693*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584377.1",
"strand": false,
"transcript": "ENST00000914318.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 832,
"aa_ref": "E",
"aa_start": 692,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3711,
"cdna_start": 2399,
"cds_end": null,
"cds_length": 2499,
"cds_start": 2074,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000897285.1",
"gene_hgnc_id": 10731,
"gene_symbol": "SEMA4C",
"hgvs_c": "c.2074G>T",
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