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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: X-154792165-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154792165&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154792165,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002436.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Glu75Gln",
"transcript": "NM_002436.4",
"protein_id": "NP_002427.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 466,
"cds_start": 223,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 2006,
"mane_select": "ENST00000369534.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002436.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Glu75Gln",
"transcript": "ENST00000369534.8",
"protein_id": "ENSP00000358547.3",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 466,
"cds_start": 223,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 2006,
"mane_select": "NM_002436.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369534.8"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Glu75Gln",
"transcript": "ENST00000393531.5",
"protein_id": "ENSP00000377165.1",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 446,
"cds_start": 223,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 1389,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393531.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "n.207-5765G>C",
"hgvs_p": null,
"transcript": "ENST00000475943.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 860,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000475943.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Glu75Gln",
"transcript": "ENST00000934478.1",
"protein_id": "ENSP00000604537.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 466,
"cds_start": 223,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 1978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934478.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Glu75Gln",
"transcript": "ENST00000955647.1",
"protein_id": "ENSP00000625706.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 465,
"cds_start": 223,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 1942,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955647.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Glu75Gln",
"transcript": "NM_001166461.2",
"protein_id": "NP_001159933.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 446,
"cds_start": 223,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 1946,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166461.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Glu75Gln",
"transcript": "ENST00000955646.1",
"protein_id": "ENSP00000625705.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 443,
"cds_start": 223,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955646.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Glu75Gln",
"transcript": "ENST00000907097.1",
"protein_id": "ENSP00000577156.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 439,
"cds_start": 223,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 1947,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907097.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.133G>C",
"hgvs_p": "p.Glu45Gln",
"transcript": "NM_001166462.2",
"protein_id": "NP_001159934.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 436,
"cds_start": 133,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 2155,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166462.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.133G>C",
"hgvs_p": "p.Glu45Gln",
"transcript": "ENST00000413259.7",
"protein_id": "ENSP00000400155.3",
"transcript_support_level": 2,
"aa_start": 45,
"aa_end": null,
"aa_length": 436,
"cds_start": 133,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 2195,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413259.7"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Glu75Gln",
"transcript": "ENST00000907099.1",
"protein_id": "ENSP00000577158.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 419,
"cds_start": 223,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 289,
"cdna_end": null,
"cdna_length": 1819,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907099.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Glu75Gln",
"transcript": "ENST00000907098.1",
"protein_id": "ENSP00000577157.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 416,
"cds_start": 223,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907098.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.85G>C",
"hgvs_p": "p.Glu29Gln",
"transcript": "ENST00000393529.5",
"protein_id": "ENSP00000377163.1",
"transcript_support_level": 5,
"aa_start": 29,
"aa_end": null,
"aa_length": 240,
"cds_start": 85,
"cds_end": null,
"cds_length": 724,
"cdna_start": 155,
"cdna_end": null,
"cdna_length": 794,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393529.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Glu75Gln",
"transcript": "XM_011531167.2",
"protein_id": "XP_011529469.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 439,
"cds_start": 223,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 1925,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531167.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.85G>C",
"hgvs_p": "p.Glu29Gln",
"transcript": "XM_047442123.1",
"protein_id": "XP_047298079.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 420,
"cds_start": 85,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 2137,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442123.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.133G>C",
"hgvs_p": "p.Glu45Gln",
"transcript": "XM_047442124.1",
"protein_id": "XP_047298080.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 409,
"cds_start": 133,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442124.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.195+28G>C",
"hgvs_p": null,
"transcript": "NM_001166460.2",
"protein_id": "NP_001159932.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 449,
"cds_start": null,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
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"cdna_length": 1955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166460.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.103-318G>C",
"hgvs_p": null,
"transcript": "ENST00000955645.1",
"protein_id": "ENSP00000625704.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955645.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.103-5765G>C",
"hgvs_p": null,
"transcript": "ENST00000907100.1",
"protein_id": "ENSP00000577159.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 1484,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907100.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.103-5765G>C",
"hgvs_p": null,
"transcript": "ENST00000453245.5",
"protein_id": "ENSP00000410888.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": null,
"cds_end": null,
"cds_length": 617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 729,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453245.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.103-2143G>C",
"hgvs_p": null,
"transcript": "ENST00000428488.1",
"protein_id": "ENSP00000391701.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": null,
"cds_end": null,
"cds_length": 469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428488.1"
},
{
"aa_ref": null,
"aa_alt": null,
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"protein_coding": true,
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
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"gnomad_mito_heteroplasmic": null,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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{
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002436.4",
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"effects": [
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],
"inheritance_mode": "",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}