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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: 11-72293609-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72293609&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 72293609,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_030813.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1882C>T",
"hgvs_p": "p.Arg628Cys",
"transcript": "NM_030813.6",
"protein_id": "NP_110440.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 707,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000294053.9",
"biotype": "protein_coding",
"feature": "NM_030813.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1882C>T",
"hgvs_p": "p.Arg628Cys",
"transcript": "ENST00000294053.9",
"protein_id": "ENSP00000294053.3",
"transcript_support_level": 1,
"aa_start": 628,
"aa_end": null,
"aa_length": 707,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_030813.6",
"biotype": "protein_coding",
"feature": "ENST00000294053.9"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1792C>T",
"hgvs_p": "p.Arg598Cys",
"transcript": "NM_001258392.3",
"protein_id": "NP_001245321.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 677,
"cds_start": 1792,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000538039.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258392.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1792C>T",
"hgvs_p": "p.Arg598Cys",
"transcript": "ENST00000538039.6",
"protein_id": "ENSP00000441518.1",
"transcript_support_level": 2,
"aa_start": 598,
"aa_end": null,
"aa_length": 677,
"cds_start": 1792,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001258392.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538039.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "n.*581C>T",
"hgvs_p": null,
"transcript": "ENST00000538021.5",
"protein_id": "ENSP00000445180.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000538021.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "n.*581C>T",
"hgvs_p": null,
"transcript": "ENST00000538021.5",
"protein_id": "ENSP00000445180.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000538021.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1855C>T",
"hgvs_p": "p.Arg619Cys",
"transcript": "ENST00000955687.1",
"protein_id": "ENSP00000625746.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 698,
"cds_start": 1855,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955687.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1837C>T",
"hgvs_p": "p.Arg613Cys",
"transcript": "ENST00000543042.6",
"protein_id": "ENSP00000439746.2",
"transcript_support_level": 2,
"aa_start": 613,
"aa_end": null,
"aa_length": 692,
"cds_start": 1837,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543042.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1825C>T",
"hgvs_p": "p.Arg609Cys",
"transcript": "ENST00000955683.1",
"protein_id": "ENSP00000625742.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 688,
"cds_start": 1825,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955683.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1822C>T",
"hgvs_p": "p.Arg608Cys",
"transcript": "ENST00000866362.1",
"protein_id": "ENSP00000536421.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 687,
"cds_start": 1822,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866362.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1822C>T",
"hgvs_p": "p.Arg608Cys",
"transcript": "ENST00000866363.1",
"protein_id": "ENSP00000536422.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 687,
"cds_start": 1822,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866363.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1789C>T",
"hgvs_p": "p.Arg597Cys",
"transcript": "ENST00000955688.1",
"protein_id": "ENSP00000625747.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 676,
"cds_start": 1789,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955688.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1777C>T",
"hgvs_p": "p.Arg593Cys",
"transcript": "ENST00000955686.1",
"protein_id": "ENSP00000625745.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 672,
"cds_start": 1777,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955686.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1747C>T",
"hgvs_p": "p.Arg583Cys",
"transcript": "NM_001258394.3",
"protein_id": "NP_001245323.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 662,
"cds_start": 1747,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258394.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1714C>T",
"hgvs_p": "p.Arg572Cys",
"transcript": "ENST00000938927.1",
"protein_id": "ENSP00000608986.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 651,
"cds_start": 1714,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938927.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1705C>T",
"hgvs_p": "p.Arg569Cys",
"transcript": "NM_001258393.3",
"protein_id": "NP_001245322.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 648,
"cds_start": 1705,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258393.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1705C>T",
"hgvs_p": "p.Arg569Cys",
"transcript": "ENST00000340729.9",
"protein_id": "ENSP00000340385.5",
"transcript_support_level": 2,
"aa_start": 569,
"aa_end": null,
"aa_length": 648,
"cds_start": 1705,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340729.9"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Arg558Cys",
"transcript": "ENST00000955685.1",
"protein_id": "ENSP00000625744.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 637,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955685.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1663C>T",
"hgvs_p": "p.Arg555Cys",
"transcript": "ENST00000955684.1",
"protein_id": "ENSP00000625743.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 634,
"cds_start": 1663,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955684.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1480C>T",
"hgvs_p": "p.Arg494Cys",
"transcript": "ENST00000866364.1",
"protein_id": "ENSP00000536423.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 573,
"cds_start": 1480,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866364.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1795C>T",
"hgvs_p": "p.Arg599Cys",
"transcript": "XM_005274320.2",
"protein_id": "XP_005274377.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 678,
"cds_start": 1795,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274320.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1657C>T",
"hgvs_p": "p.Arg553Cys",
"transcript": "XM_047427655.1",
"protein_id": "XP_047283611.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 632,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.788,
"phylop100way_prediction": "Pathogenic",
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"acmg_score": -4,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 1,
"criteria": [
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"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_030813.6",
"gene_symbol": "CLPB",
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"effects": [
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"inheritance_mode": "AR,AD",
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{
"score": -4,
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"verdict": "Likely_benign",
"transcript": "ENST00000794920.1",
"gene_symbol": "ENSG00000255843",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.88-9003G>A",
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}
],
"clinvar_disease": " type VIIB,3-methylglutaconic aciduria,CLPB-related disorder,Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:2 US:9 O:1",
"phenotype_combined": "3-methylglutaconic aciduria, type VIIB|not provided|not specified|CLPB-related disorder|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}