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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: 5-150404685-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=150404685&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 150404685,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001025159.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD74",
"gene_hgnc_id": 1697,
"hgvs_c": "c.620C>T",
"hgvs_p": "p.Pro207Leu",
"transcript": "NM_001025159.3",
"protein_id": "NP_001020330.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 296,
"cds_start": 620,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000009530.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001025159.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD74",
"gene_hgnc_id": 1697,
"hgvs_c": "c.620C>T",
"hgvs_p": "p.Pro207Leu",
"transcript": "ENST00000009530.13",
"protein_id": "ENSP00000009530.7",
"transcript_support_level": 2,
"aa_start": 207,
"aa_end": null,
"aa_length": 296,
"cds_start": 620,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001025159.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000009530.13"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD74",
"gene_hgnc_id": 1697,
"hgvs_c": "c.620C>T",
"hgvs_p": "p.Pro207Leu",
"transcript": "ENST00000353334.11",
"protein_id": "ENSP00000230685.6",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 232,
"cds_start": 620,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353334.11"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CD74",
"gene_hgnc_id": 1697,
"hgvs_c": "c.441+1574C>T",
"hgvs_p": null,
"transcript": "ENST00000377795.7",
"protein_id": "ENSP00000367026.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 160,
"cds_start": null,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377795.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD74",
"gene_hgnc_id": 1697,
"hgvs_c": "c.620C>T",
"hgvs_p": "p.Pro207Leu",
"transcript": "ENST00000881220.1",
"protein_id": "ENSP00000551279.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 320,
"cds_start": 620,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881220.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD74",
"gene_hgnc_id": 1697,
"hgvs_c": "c.611C>T",
"hgvs_p": "p.Pro204Leu",
"transcript": "ENST00000949574.1",
"protein_id": "ENSP00000619633.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 293,
"cds_start": 611,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949574.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD74",
"gene_hgnc_id": 1697,
"hgvs_c": "c.602C>T",
"hgvs_p": "p.Pro201Leu",
"transcript": "ENST00000881212.1",
"protein_id": "ENSP00000551271.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 290,
"cds_start": 602,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881212.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD74",
"gene_hgnc_id": 1697,
"hgvs_c": "c.620C>T",
"hgvs_p": "p.Pro207Leu",
"transcript": "ENST00000881213.1",
"protein_id": "ENSP00000551272.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 274,
"cds_start": 620,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881213.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD74",
"gene_hgnc_id": 1697,
"hgvs_c": "c.524C>T",
"hgvs_p": "p.Pro175Leu",
"transcript": "ENST00000881223.1",
"protein_id": "ENSP00000551282.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 264,
"cds_start": 524,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881223.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD74",
"gene_hgnc_id": 1697,
"hgvs_c": "c.620C>T",
"hgvs_p": "p.Pro207Leu",
"transcript": "ENST00000881215.1",
"protein_id": "ENSP00000551274.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 256,
"cds_start": 620,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881215.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD74",
"gene_hgnc_id": 1697,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Pro220Leu",
"transcript": "ENST00000881221.1",
"protein_id": "ENSP00000551280.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 245,
"cds_start": 659,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881221.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD74",
"gene_hgnc_id": 1697,
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Pro155Leu",
"transcript": "ENST00000881214.1",
"protein_id": "ENSP00000551273.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 244,
"cds_start": 464,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881214.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD74",
"gene_hgnc_id": 1697,
"hgvs_c": "c.620C>T",
"hgvs_p": "p.Pro207Leu",
"transcript": "NM_004355.4",
"protein_id": "NP_004346.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 232,
"cds_start": 620,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004355.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD74",
"gene_hgnc_id": 1697,
"hgvs_c": "c.611C>T",
"hgvs_p": "p.Pro204Leu",
"transcript": "ENST00000881216.1",
"protein_id": "ENSP00000551275.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 229,
"cds_start": 611,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881216.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD74",
"gene_hgnc_id": 1697,
"hgvs_c": "c.602C>T",
"hgvs_p": "p.Pro201Leu",
"transcript": "ENST00000881217.1",
"protein_id": "ENSP00000551276.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 226,
"cds_start": 602,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881217.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD74",
"gene_hgnc_id": 1697,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Pro194Leu",
"transcript": "ENST00000881219.1",
"protein_id": "ENSP00000551278.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 219,
"cds_start": 581,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881219.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD74",
"gene_hgnc_id": 1697,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Pro186Leu",
"transcript": "NM_001364083.3",
"protein_id": "NP_001351012.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 211,
"cds_start": 557,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364083.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD74",
"gene_hgnc_id": 1697,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Pro186Leu",
"transcript": "ENST00000881211.1",
"protein_id": "ENSP00000551270.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 211,
"cds_start": 557,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881211.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD74",
"gene_hgnc_id": 1697,
"hgvs_c": "c.524C>T",
"hgvs_p": "p.Pro175Leu",
"transcript": "ENST00000881222.1",
"protein_id": "ENSP00000551281.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 200,
"cds_start": 524,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881222.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD74",
"gene_hgnc_id": 1697,
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Pro155Leu",
"transcript": "ENST00000881218.1",
"protein_id": "ENSP00000551277.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 180,
"cds_start": 464,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881218.1"
},
{
"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": 5,
"intron_rank_end": null,
"gene_symbol": "CD74",
"gene_hgnc_id": 1697,
"hgvs_c": "c.537+400C>T",
"hgvs_p": null,
"transcript": "NM_001364084.3",
"protein_id": "NP_001351013.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": null,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364084.3"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CD74",
"gene_hgnc_id": 1697,
"hgvs_c": "c.441+1574C>T",
"hgvs_p": null,
"transcript": "NM_001025158.3",
"protein_id": "NP_001020329.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 160,
"cds_start": null,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001025158.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
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{
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{
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"biotype": "pseudogene",
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],
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"dbsnp": "rs750969748",
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"hom_count_reference_population": 1,
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"gnomad_exomes_homalt": 1,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.055113375186920166,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.067,
"revel_prediction": "Benign",
"alphamissense_score": 0.0824,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.219,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
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"pathogenic_score": 0,
"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_001025159.3",
"gene_symbol": "CD74",
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"effects": [
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Pro207Leu"
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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
}