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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: 15-74890086-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=74890086&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 74890086,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_002435.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPI",
"gene_hgnc_id": 7216,
"hgvs_c": "c.13C>T",
"hgvs_p": "p.Arg5*",
"transcript": "NM_002435.3",
"protein_id": "NP_002426.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 423,
"cds_start": 13,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 45,
"cdna_end": null,
"cdna_length": 5793,
"mane_select": "ENST00000352410.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPI",
"gene_hgnc_id": 7216,
"hgvs_c": "c.13C>T",
"hgvs_p": "p.Arg5*",
"transcript": "ENST00000352410.9",
"protein_id": "ENSP00000318318.6",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 423,
"cds_start": 13,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 45,
"cdna_end": null,
"cdna_length": 5793,
"mane_select": "NM_002435.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPI",
"gene_hgnc_id": 7216,
"hgvs_c": "c.13C>T",
"hgvs_p": "p.Arg5*",
"transcript": "ENST00000323744.10",
"protein_id": "ENSP00000318192.6",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 362,
"cds_start": 13,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 45,
"cdna_end": null,
"cdna_length": 1619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPI",
"gene_hgnc_id": 7216,
"hgvs_c": "c.13C>T",
"hgvs_p": "p.Arg5*",
"transcript": "ENST00000563422.5",
"protein_id": "ENSP00000457885.1",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 339,
"cds_start": 13,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 45,
"cdna_end": null,
"cdna_length": 1481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPI",
"gene_hgnc_id": 7216,
"hgvs_c": "c.13C>T",
"hgvs_p": "p.Arg5*",
"transcript": "ENST00000566377.5",
"protein_id": "ENSP00000455405.1",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 287,
"cds_start": 13,
"cds_end": null,
"cds_length": 864,
"cdna_start": 48,
"cdna_end": null,
"cdna_length": 2809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPI",
"gene_hgnc_id": 7216,
"hgvs_c": "c.13C>T",
"hgvs_p": "p.Arg5*",
"transcript": "NM_001289157.2",
"protein_id": "NP_001276086.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 362,
"cds_start": 13,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 45,
"cdna_end": null,
"cdna_length": 5610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPI",
"gene_hgnc_id": 7216,
"hgvs_c": "c.13C>T",
"hgvs_p": "p.Arg5*",
"transcript": "NM_001289155.2",
"protein_id": "NP_001276084.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 287,
"cds_start": 13,
"cds_end": null,
"cds_length": 864,
"cdna_start": 45,
"cdna_end": null,
"cdna_length": 5584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPI",
"gene_hgnc_id": 7216,
"hgvs_c": "c.13C>T",
"hgvs_p": "p.Arg5*",
"transcript": "ENST00000565576.5",
"protein_id": "ENSP00000454619.1",
"transcript_support_level": 2,
"aa_start": 5,
"aa_end": null,
"aa_length": 264,
"cds_start": 13,
"cds_end": null,
"cds_length": 795,
"cdna_start": 25,
"cdna_end": null,
"cdna_length": 1148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPI",
"gene_hgnc_id": 7216,
"hgvs_c": "c.13C>T",
"hgvs_p": "p.Arg5*",
"transcript": "ENST00000568828.5",
"protein_id": "ENSP00000455065.1",
"transcript_support_level": 4,
"aa_start": 5,
"aa_end": null,
"aa_length": 184,
"cds_start": 13,
"cds_end": null,
"cds_length": 556,
"cdna_start": 35,
"cdna_end": null,
"cdna_length": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPI",
"gene_hgnc_id": 7216,
"hgvs_c": "c.13C>T",
"hgvs_p": "p.Arg5*",
"transcript": "ENST00000567132.5",
"protein_id": "ENSP00000455972.1",
"transcript_support_level": 4,
"aa_start": 5,
"aa_end": null,
"aa_length": 174,
"cds_start": 13,
"cds_end": null,
"cds_length": 527,
"cdna_start": 45,
"cdna_end": null,
"cdna_length": 559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPI",
"gene_hgnc_id": 7216,
"hgvs_c": "c.13C>T",
"hgvs_p": "p.Arg5*",
"transcript": "ENST00000569233.5",
"protein_id": "ENSP00000454622.1",
"transcript_support_level": 4,
"aa_start": 5,
"aa_end": null,
"aa_length": 173,
"cds_start": 13,
"cds_end": null,
"cds_length": 523,
"cdna_start": 45,
"cdna_end": null,
"cdna_length": 555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPI",
"gene_hgnc_id": 7216,
"hgvs_c": "c.13C>T",
"hgvs_p": "p.Arg5*",
"transcript": "ENST00000568907.5",
"protein_id": "ENSP00000457494.1",
"transcript_support_level": 4,
"aa_start": 5,
"aa_end": null,
"aa_length": 167,
"cds_start": 13,
"cds_end": null,
"cds_length": 505,
"cdna_start": 45,
"cdna_end": null,
"cdna_length": 537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPI",
"gene_hgnc_id": 7216,
"hgvs_c": "c.13C>T",
"hgvs_p": "p.Arg5*",
"transcript": "ENST00000562800.5",
"protein_id": "ENSP00000457619.1",
"transcript_support_level": 3,
"aa_start": 5,
"aa_end": null,
"aa_length": 124,
"cds_start": 13,
"cds_end": null,
"cds_length": 375,
"cdna_start": 45,
"cdna_end": null,
"cdna_length": 407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPI",
"gene_hgnc_id": 7216,
"hgvs_c": "n.13C>T",
"hgvs_p": null,
"transcript": "ENST00000561470.5",
"protein_id": "ENSP00000454267.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPI",
"gene_hgnc_id": 7216,
"hgvs_c": "n.44C>T",
"hgvs_p": null,
"transcript": "ENST00000567116.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPI",
"gene_hgnc_id": 7216,
"hgvs_c": "n.41C>T",
"hgvs_p": null,
"transcript": "ENST00000568303.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPI",
"gene_hgnc_id": 7216,
"hgvs_c": "n.10C>T",
"hgvs_p": null,
"transcript": "ENST00000568840.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPI",
"gene_hgnc_id": 7216,
"hgvs_c": "c.-137C>T",
"hgvs_p": null,
"transcript": "NM_001330372.2",
"protein_id": "NP_001317301.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": -4,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPI",
"gene_hgnc_id": 7216,
"hgvs_c": "c.-137C>T",
"hgvs_p": null,
"transcript": "ENST00000563786.5",
"protein_id": "ENSP00000455241.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1707,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPI",
"gene_hgnc_id": 7216,
"hgvs_c": "c.-10C>T",
"hgvs_p": null,
"transcript": "NM_001289156.2",
"protein_id": "NP_001276085.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 373,
"cds_start": -4,
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"cds_length": 1122,
"cdna_start": null,
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"cdna_length": 5665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPI",
"gene_hgnc_id": 7216,
"hgvs_c": "c.-10C>T",
"hgvs_p": null,
"transcript": "ENST00000535694.5",
"protein_id": "ENSP00000440447.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 373,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPI",
"gene_hgnc_id": 7216,
"hgvs_c": "c.-22C>T",
"hgvs_p": null,
"transcript": "ENST00000562606.5",
"protein_id": "ENSP00000457020.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 319,
"cds_start": -4,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPI",
"gene_hgnc_id": 7216,
"hgvs_c": "c.-22C>T",
"hgvs_p": null,
"transcript": "ENST00000569931.5",
"protein_id": "ENSP00000455161.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 287,
"cds_start": -4,
"cds_end": null,
"cds_length": 866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
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],
"gene_symbol": "MPI",
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"dbsnp": "rs1452559752",
"frequency_reference_population": 0.0000068411364,
"hom_count_reference_population": 0,
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"computational_score_selected": -0.10000000149011612,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.256,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
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"pathogenic_score": 18,
"criteria": [
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"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_002435.3",
"gene_symbol": "MPI",
"hgnc_id": 7216,
"effects": [
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Arg5*"
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],
"clinvar_disease": "MPI-congenital disorder of glycosylation",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "MPI-congenital disorder of glycosylation",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}