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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: 18-9950422-CC-AG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=9950422&ref=CC&alt=AG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "VAPA",
"hgnc_id": 12648,
"hgvs_c": "c.580_581delCCinsAG",
"hgvs_p": "p.Pro194Arg",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_003574.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "18",
"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": "R",
"aa_end": null,
"aa_length": 249,
"aa_ref": "P",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6801,
"cdna_start": 686,
"cds_end": null,
"cds_length": 750,
"cds_start": 445,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_194434.3",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.445_446delCCinsAG",
"hgvs_p": "p.Pro149Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000400000.7",
"protein_coding": true,
"protein_id": "NP_919415.2",
"strand": true,
"transcript": "NM_194434.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 249,
"aa_ref": "P",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6801,
"cdna_start": 686,
"cds_end": null,
"cds_length": 750,
"cds_start": 445,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000400000.7",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.445_446delCCinsAG",
"hgvs_p": "p.Pro149Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_194434.3",
"protein_coding": true,
"protein_id": "ENSP00000382880.3",
"strand": true,
"transcript": "ENST00000400000.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 316,
"aa_ref": "P",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1570,
"cdna_start": 653,
"cds_end": null,
"cds_length": 951,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971051.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.646_647delCCinsAG",
"hgvs_p": "p.Pro216Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641110.1",
"strand": true,
"transcript": "ENST00000971051.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 294,
"aa_ref": "P",
"aa_start": 194,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6936,
"cdna_start": 821,
"cds_end": null,
"cds_length": 885,
"cds_start": 580,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003574.6",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.580_581delCCinsAG",
"hgvs_p": "p.Pro194Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003565.4",
"strand": true,
"transcript": "NM_003574.6",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 294,
"aa_ref": "P",
"aa_start": 194,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1227,
"cdna_start": 775,
"cds_end": null,
"cds_length": 885,
"cds_start": 580,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000340541.4",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.580_581delCCinsAG",
"hgvs_p": "p.Pro194Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000345656.4",
"strand": true,
"transcript": "ENST00000340541.4",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 267,
"aa_ref": "P",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1634,
"cdna_start": 717,
"cds_end": null,
"cds_length": 804,
"cds_start": 499,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928107.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.499_500delCCinsAG",
"hgvs_p": "p.Pro167Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598166.1",
"strand": true,
"transcript": "ENST00000928107.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 252,
"aa_ref": "P",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1577,
"cdna_start": 649,
"cds_end": null,
"cds_length": 759,
"cds_start": 445,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971050.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.445_446delCCinsAG",
"hgvs_p": "p.Pro149Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641109.1",
"strand": true,
"transcript": "ENST00000971050.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 250,
"aa_ref": "P",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1586,
"cdna_start": 666,
"cds_end": null,
"cds_length": 753,
"cds_start": 448,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897660.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.448_449delCCinsAG",
"hgvs_p": "p.Pro150Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567719.1",
"strand": true,
"transcript": "ENST00000897660.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 248,
"aa_ref": "P",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1590,
"cdna_start": 676,
"cds_end": null,
"cds_length": 747,
"cds_start": 442,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928106.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.442_443delCCinsAG",
"hgvs_p": "p.Pro148Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598165.1",
"strand": true,
"transcript": "ENST00000928106.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 248,
"aa_ref": "P",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3612,
"cdna_start": 783,
"cds_end": null,
"cds_length": 747,
"cds_start": 442,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971047.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.442_443delCCinsAG",
"hgvs_p": "p.Pro148Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641106.1",
"strand": true,
"transcript": "ENST00000971047.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 248,
"aa_ref": "P",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1588,
"cdna_start": 672,
"cds_end": null,
"cds_length": 747,
"cds_start": 445,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971048.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.445_446delCCinsAG",
"hgvs_p": "p.Pro149Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641107.1",
"strand": true,
"transcript": "ENST00000971048.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 246,
"aa_ref": "P",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1570,
"cdna_start": 690,
"cds_end": null,
"cds_length": 741,
"cds_start": 436,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971049.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.436_437delCCinsAG",
"hgvs_p": "p.Pro146Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641108.1",
"strand": true,
"transcript": "ENST00000971049.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 243,
"aa_ref": "P",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1382,
"cdna_start": 463,
"cds_end": null,
"cds_length": 732,
"cds_start": 427,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897662.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.427_428delCCinsAG",
"hgvs_p": "p.Pro143Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567721.1",
"strand": true,
"transcript": "ENST00000897662.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 222,
"aa_ref": "P",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1487,
"cdna_start": 605,
"cds_end": null,
"cds_length": 669,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897661.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.364_365delCCinsAG",
"hgvs_p": "p.Pro122Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567720.1",
"strand": true,
"transcript": "ENST00000897661.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 198,
"aa_ref": "P",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1790,
"cdna_start": 571,
"cds_end": null,
"cds_length": 597,
"cds_start": 292,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897659.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.292_293delCCinsAG",
"hgvs_p": "p.Pro98Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567718.1",
"strand": true,
"transcript": "ENST00000897659.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 281,
"aa_ref": "P",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6940,
"cdna_start": 825,
"cds_end": null,
"cds_length": 846,
"cds_start": 541,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047437928.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.541_542delCCinsAG",
"hgvs_p": "p.Pro181Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293884.1",
"strand": true,
"transcript": "XM_047437928.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 281,
"aa_ref": "P",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9337,
"cdna_start": 3222,
"cds_end": null,
"cds_length": 846,
"cds_start": 541,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047437929.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.541_542delCCinsAG",
"hgvs_p": "p.Pro181Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293885.1",
"strand": true,
"transcript": "XM_047437929.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 281,
"aa_ref": "P",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7237,
"cdna_start": 1122,
"cds_end": null,
"cds_length": 846,
"cds_start": 541,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047437930.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.541_542delCCinsAG",
"hgvs_p": "p.Pro181Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293886.1",
"strand": true,
"transcript": "XM_047437930.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 281,
"aa_ref": "P",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6863,
"cdna_start": 748,
"cds_end": null,
"cds_length": 846,
"cds_start": 541,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047437931.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.541_542delCCinsAG",
"hgvs_p": "p.Pro181Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293887.1",
"strand": true,
"transcript": "XM_047437931.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 236,
"aa_ref": "P",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7102,
"cdna_start": 987,
"cds_end": null,
"cds_length": 711,
"cds_start": 406,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017026079.2",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.406_407delCCinsAG",
"hgvs_p": "p.Pro136Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881568.1",
"strand": true,
"transcript": "XM_017026079.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 236,
"aa_ref": "P",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7205,
"cdna_start": 1090,
"cds_end": null,
"cds_length": 711,
"cds_start": 406,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047437932.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.406_407delCCinsAG",
"hgvs_p": "p.Pro136Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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