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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: 6-136345984-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=136345984&ref=G&alt=A&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": "MAP7",
"hgnc_id": 6869,
"hgvs_c": "c.2201C>T",
"hgvs_p": "p.Pro734Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001198609.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000293092",
"hgnc_id": null,
"hgvs_c": "n.315-18695G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000754117.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1042,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.18920588493347168,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 749,
"aa_ref": "P",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3758,
"cdna_start": 2125,
"cds_end": null,
"cds_length": 2250,
"cds_start": 2111,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_003980.6",
"gene_hgnc_id": 6869,
"gene_symbol": "MAP7",
"hgvs_c": "c.2111C>T",
"hgvs_p": "p.Pro704Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000354570.8",
"protein_coding": true,
"protein_id": "NP_003971.1",
"strand": false,
"transcript": "NM_003980.6",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 749,
"aa_ref": "P",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3758,
"cdna_start": 2125,
"cds_end": null,
"cds_length": 2250,
"cds_start": 2111,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000354570.8",
"gene_hgnc_id": 6869,
"gene_symbol": "MAP7",
"hgvs_c": "c.2111C>T",
"hgvs_p": "p.Pro704Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003980.6",
"protein_coding": true,
"protein_id": "ENSP00000346581.2",
"strand": false,
"transcript": "ENST00000354570.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 779,
"aa_ref": "P",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4452,
"cdna_start": 2819,
"cds_end": null,
"cds_length": 2340,
"cds_start": 2201,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001198609.2",
"gene_hgnc_id": 6869,
"gene_symbol": "MAP7",
"hgvs_c": "c.2201C>T",
"hgvs_p": "p.Pro734Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185538.1",
"strand": false,
"transcript": "NM_001198609.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 779,
"aa_ref": "P",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4062,
"cdna_start": 2429,
"cds_end": null,
"cds_length": 2340,
"cds_start": 2201,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001388328.1",
"gene_hgnc_id": 6869,
"gene_symbol": "MAP7",
"hgvs_c": "c.2201C>T",
"hgvs_p": "p.Pro734Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375257.1",
"strand": false,
"transcript": "NM_001388328.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 779,
"aa_ref": "P",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4024,
"cdna_start": 2391,
"cds_end": null,
"cds_length": 2340,
"cds_start": 2201,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001388329.1",
"gene_hgnc_id": 6869,
"gene_symbol": "MAP7",
"hgvs_c": "c.2201C>T",
"hgvs_p": "p.Pro734Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375258.1",
"strand": false,
"transcript": "NM_001388329.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 779,
"aa_ref": "P",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4393,
"cdna_start": 2760,
"cds_end": null,
"cds_length": 2340,
"cds_start": 2201,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001388330.1",
"gene_hgnc_id": 6869,
"gene_symbol": "MAP7",
"hgvs_c": "c.2201C>T",
"hgvs_p": "p.Pro734Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375259.1",
"strand": false,
"transcript": "NM_001388330.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 779,
"aa_ref": "P",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4536,
"cdna_start": 2450,
"cds_end": null,
"cds_length": 2340,
"cds_start": 2201,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000617204.4",
"gene_hgnc_id": 6869,
"gene_symbol": "MAP7",
"hgvs_c": "c.2201C>T",
"hgvs_p": "p.Pro734Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482335.1",
"strand": false,
"transcript": "ENST00000617204.4",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 778,
"aa_ref": "P",
"aa_start": 733,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4449,
"cdna_start": 2816,
"cds_end": null,
"cds_length": 2337,
"cds_start": 2198,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001388331.1",
"gene_hgnc_id": 6869,
"gene_symbol": "MAP7",
"hgvs_c": "c.2198C>T",
"hgvs_p": "p.Pro733Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375260.1",
"strand": false,
"transcript": "NM_001388331.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 778,
"aa_ref": "P",
"aa_start": 733,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3280,
"cdna_start": 2400,
"cds_end": null,
"cds_length": 2337,
"cds_start": 2198,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000877105.1",
"gene_hgnc_id": 6869,
"gene_symbol": "MAP7",
"hgvs_c": "c.2198C>T",
"hgvs_p": "p.Pro733Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547164.1",
"strand": false,
"transcript": "ENST00000877105.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 771,
"aa_ref": "P",
"aa_start": 726,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4428,
"cdna_start": 2795,
"cds_end": null,
"cds_length": 2316,
"cds_start": 2177,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001198608.3",
"gene_hgnc_id": 6869,
"gene_symbol": "MAP7",
"hgvs_c": "c.2177C>T",
"hgvs_p": "p.Pro726Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185537.1",
"strand": false,
"transcript": "NM_001198608.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 771,
"aa_ref": "P",
"aa_start": 726,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4038,
"cdna_start": 2405,
"cds_end": null,
"cds_length": 2316,
"cds_start": 2177,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001198614.2",
"gene_hgnc_id": 6869,
"gene_symbol": "MAP7",
"hgvs_c": "c.2177C>T",
"hgvs_p": "p.Pro726Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185543.1",
"strand": false,
"transcript": "NM_001198614.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 771,
"aa_ref": "P",
"aa_start": 726,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4369,
"cdna_start": 2736,
"cds_end": null,
"cds_length": 2316,
"cds_start": 2177,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001388332.1",
"gene_hgnc_id": 6869,
"gene_symbol": "MAP7",
"hgvs_c": "c.2177C>T",
"hgvs_p": "p.Pro726Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375261.1",
"strand": false,
"transcript": "NM_001388332.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4000,
"cdna_start": 2367,
"cds_end": null,
"cds_length": 2316,
"cds_start": 2177,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001388333.1",
"gene_hgnc_id": 6869,
"gene_symbol": "MAP7",
"hgvs_c": "c.2177C>T",
"hgvs_p": "p.Pro726Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375262.1",
"strand": false,
"transcript": "NM_001388333.1",
"transcript_support_level": null
},
{
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"aa_length": 771,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3119,
"cdna_start": 2295,
"cds_end": null,
"cds_length": 2316,
"cds_start": 2177,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000454590.5",
"gene_hgnc_id": 6869,
"gene_symbol": "MAP7",
"hgvs_c": "c.2177C>T",
"hgvs_p": "p.Pro726Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414712.1",
"strand": false,
"transcript": "ENST00000454590.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
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"aa_length": 757,
"aa_ref": "P",
"aa_start": 712,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3782,
"cdna_start": 2149,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2135,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001388334.1",
"gene_hgnc_id": 6869,
"gene_symbol": "MAP7",
"hgvs_c": "c.2135C>T",
"hgvs_p": "p.Pro712Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375263.1",
"strand": false,
"transcript": "NM_001388334.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 757,
"aa_ref": "P",
"aa_start": 712,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3932,
"cdna_start": 2304,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2135,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000877103.1",
"gene_hgnc_id": 6869,
"gene_symbol": "MAP7",
"hgvs_c": "c.2135C>T",
"hgvs_p": "p.Pro712Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547162.1",
"strand": false,
"transcript": "ENST00000877103.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3779,
"cdna_start": 2146,
"cds_end": null,
"cds_length": 2271,
"cds_start": 2132,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001388335.1",
"gene_hgnc_id": 6869,
"gene_symbol": "MAP7",
"hgvs_c": "c.2132C>T",
"hgvs_p": "p.Pro711Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375264.1",
"strand": false,
"transcript": "NM_001388335.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3781,
"cdna_start": 2148,
"cds_end": null,
"cds_length": 2271,
"cds_start": 2132,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000938979.1",
"gene_hgnc_id": 6869,
"gene_symbol": "MAP7",
"hgvs_c": "c.2132C>T",
"hgvs_p": "p.Pro711Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609038.1",
"strand": false,
"transcript": "ENST00000938979.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3822,
"cdna_start": 2194,
"cds_end": null,
"cds_length": 2268,
"cds_start": 2129,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000938977.1",
"gene_hgnc_id": 6869,
"gene_symbol": "MAP7",
"hgvs_c": "c.2129C>T",
"hgvs_p": "p.Pro710Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609036.1",
"strand": false,
"transcript": "ENST00000938977.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 748,
"aa_ref": "P",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3846,
"cdna_start": 2216,
"cds_end": null,
"cds_length": 2247,
"cds_start": 2111,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000938976.1",
"gene_hgnc_id": 6869,
"gene_symbol": "MAP7",
"hgvs_c": "c.2111C>T",
"hgvs_p": "p.Pro704Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609035.1",
"strand": false,
"transcript": "ENST00000938976.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 742,
"aa_ref": "P",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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