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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: 4-99043360-CCC-ACG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=99043360&ref=CCC&alt=ACG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "METAP1",
"hgnc_id": 15789,
"hgvs_c": "c.628_630delCCCinsACG",
"hgvs_p": "p.Pro210Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_015143.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "4",
"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": "T",
"aa_end": null,
"aa_length": 386,
"aa_ref": "P",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2686,
"cdna_start": 661,
"cds_end": null,
"cds_length": 1161,
"cds_start": 628,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015143.3",
"gene_hgnc_id": 15789,
"gene_symbol": "METAP1",
"hgvs_c": "c.628_630delCCCinsACG",
"hgvs_p": "p.Pro210Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000296411.11",
"protein_coding": true,
"protein_id": "NP_055958.2",
"strand": true,
"transcript": "NM_015143.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 386,
"aa_ref": "P",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2686,
"cdna_start": 661,
"cds_end": null,
"cds_length": 1161,
"cds_start": 628,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000296411.11",
"gene_hgnc_id": 15789,
"gene_symbol": "METAP1",
"hgvs_c": "c.628_630delCCCinsACG",
"hgvs_p": "p.Pro210Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015143.3",
"protein_coding": true,
"protein_id": "ENSP00000296411.6",
"strand": true,
"transcript": "ENST00000296411.11",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 385,
"aa_ref": "P",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2744,
"cdna_start": 719,
"cds_end": null,
"cds_length": 1158,
"cds_start": 625,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000869926.1",
"gene_hgnc_id": 15789,
"gene_symbol": "METAP1",
"hgvs_c": "c.625_627delCCCinsACG",
"hgvs_p": "p.Pro209Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539985.1",
"strand": true,
"transcript": "ENST00000869926.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 385,
"aa_ref": "P",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2928,
"cdna_start": 794,
"cds_end": null,
"cds_length": 1158,
"cds_start": 625,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969299.1",
"gene_hgnc_id": 15789,
"gene_symbol": "METAP1",
"hgvs_c": "c.625_627delCCCinsACG",
"hgvs_p": "p.Pro209Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639358.1",
"strand": true,
"transcript": "ENST00000969299.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 383,
"aa_ref": "P",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2691,
"cdna_start": 675,
"cds_end": null,
"cds_length": 1152,
"cds_start": 628,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000924347.1",
"gene_hgnc_id": 15789,
"gene_symbol": "METAP1",
"hgvs_c": "c.628_630delCCCinsACG",
"hgvs_p": "p.Pro210Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594406.1",
"strand": true,
"transcript": "ENST00000924347.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 376,
"aa_ref": "P",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2651,
"cdna_start": 628,
"cds_end": null,
"cds_length": 1131,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000869927.1",
"gene_hgnc_id": 15789,
"gene_symbol": "METAP1",
"hgvs_c": "c.598_600delCCCinsACG",
"hgvs_p": "p.Pro200Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539986.1",
"strand": true,
"transcript": "ENST00000869927.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 367,
"aa_ref": "P",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2618,
"cdna_start": 593,
"cds_end": null,
"cds_length": 1104,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000869928.1",
"gene_hgnc_id": 15789,
"gene_symbol": "METAP1",
"hgvs_c": "c.571_573delCCCinsACG",
"hgvs_p": "p.Pro191Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539987.1",
"strand": true,
"transcript": "ENST00000869928.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 364,
"aa_ref": "P",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3268,
"cdna_start": 675,
"cds_end": null,
"cds_length": 1095,
"cds_start": 628,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000869925.1",
"gene_hgnc_id": 15789,
"gene_symbol": "METAP1",
"hgvs_c": "c.628_630delCCCinsACG",
"hgvs_p": "p.Pro210Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539984.1",
"strand": true,
"transcript": "ENST00000869925.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 345,
"aa_ref": "P",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2580,
"cdna_start": 621,
"cds_end": null,
"cds_length": 1038,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000924346.1",
"gene_hgnc_id": 15789,
"gene_symbol": "METAP1",
"hgvs_c": "c.571_573delCCCinsACG",
"hgvs_p": "p.Pro191Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594405.1",
"strand": true,
"transcript": "ENST00000924346.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 316,
"aa_ref": "P",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2617,
"cdna_start": 692,
"cds_end": null,
"cds_length": 951,
"cds_start": 628,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000924345.1",
"gene_hgnc_id": 15789,
"gene_symbol": "METAP1",
"hgvs_c": "c.628_630delCCCinsACG",
"hgvs_p": "p.Pro210Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594404.1",
"strand": true,
"transcript": "ENST00000924345.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 315,
"aa_ref": "P",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2452,
"cdna_start": 637,
"cds_end": null,
"cds_length": 948,
"cds_start": 625,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000924348.1",
"gene_hgnc_id": 15789,
"gene_symbol": "METAP1",
"hgvs_c": "c.625_627delCCCinsACG",
"hgvs_p": "p.Pro209Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594407.1",
"strand": true,
"transcript": "ENST00000924348.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 303,
"aa_ref": "P",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2428,
"cdna_start": 401,
"cds_end": null,
"cds_length": 912,
"cds_start": 379,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969300.1",
"gene_hgnc_id": 15789,
"gene_symbol": "METAP1",
"hgvs_c": "c.379_381delCCCinsACG",
"hgvs_p": "p.Pro127Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639359.1",
"strand": true,
"transcript": "ENST00000969300.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 170,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 715,
"cdna_start": 112,
"cds_end": null,
"cds_length": 513,
"cds_start": 112,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000510133.5",
"gene_hgnc_id": 15789,
"gene_symbol": "METAP1",
"hgvs_c": "c.112_114delCCCinsACG",
"hgvs_p": "p.Pro38Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423071.1",
"strand": true,
"transcript": "ENST00000510133.5",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 373,
"aa_ref": "P",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6035,
"cdna_start": 4010,
"cds_end": null,
"cds_length": 1122,
"cds_start": 589,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011531777.4",
"gene_hgnc_id": 15789,
"gene_symbol": "METAP1",
"hgvs_c": "c.589_591delCCCinsACG",
"hgvs_p": "p.Pro197Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011530079.1",
"strand": true,
"transcript": "XM_011531777.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 351,
"aa_ref": "P",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2765,
"cdna_start": 740,
"cds_end": null,
"cds_length": 1056,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011531778.3",
"gene_hgnc_id": 15789,
"gene_symbol": "METAP1",
"hgvs_c": "c.523_525delCCCinsACG",
"hgvs_p": "p.Pro175Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011530080.1",
"strand": true,
"transcript": "XM_011531778.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 342,
"aa_ref": "P",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2554,
"cdna_start": 661,
"cds_end": null,
"cds_length": 1029,
"cds_start": 628,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011531779.3",
"gene_hgnc_id": 15789,
"gene_symbol": "METAP1",
"hgvs_c": "c.628_630delCCCinsACG",
"hgvs_p": "p.Pro210Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011530081.1",
"strand": true,
"transcript": "XM_011531779.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 338,
"aa_ref": "P",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2542,
"cdna_start": 661,
"cds_end": null,
"cds_length": 1017,
"cds_start": 628,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017007914.3",
"gene_hgnc_id": 15789,
"gene_symbol": "METAP1",
"hgvs_c": "c.628_630delCCCinsACG",
"hgvs_p": "p.Pro210Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016863403.1",
"strand": true,
"transcript": "XM_017007914.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 336,
"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2960,
"cdna_start": 935,
"cds_end": null,
"cds_length": 1011,
"cds_start": 478,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047449883.1",
"gene_hgnc_id": 15789,
"gene_symbol": "METAP1",
"hgvs_c": "c.478_480delCCCinsACG",
"hgvs_p": "p.Pro160Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305839.1",
"strand": true,
"transcript": "XM_047449883.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 336,
"aa_ref": "P",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2757,
"cdna_start": 732,
"cds_end": null,
"cds_length": 1011,
"cds_start": 478,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047449884.1",
"gene_hgnc_id": 15789,
"gene_symbol": "METAP1",
"hgvs_c": "c.478_480delCCCinsACG",
"hgvs_p": "p.Pro160Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305840.1",
"strand": true,
"transcript": "XM_047449884.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 336,
"aa_ref": "P",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2920,
"cdna_start": 895,
"cds_end": null,
"cds_length": 1011,
"cds_start": 478,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047449885.1",
"gene_hgnc_id": 15789,
"gene_symbol": "METAP1",
"hgvs_c": "c.478_480delCCCinsACG",
"hgvs_p": "p.Pro160Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305841.1",
"strand": true,
"transcript": "XM_047449885.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 329,
"aa_ref": "P",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5903,
"cdna_start": 4010,
"cds_end": null,
"cds_length": 990,
"cds_start": 589,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024453946.2",
"gene_hgnc_id": 15789,
"gene_symbol": "METAP1",
"hgvs_c": "c.589_591delCCCinsACG",
"hgvs_p": "p.Pro197Thr",
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