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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: 17-19381057-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=19381057&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 19381057,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002749.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Pro283Leu",
"transcript": "NM_002749.4",
"protein_id": "NP_002740.2",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 816,
"cds_start": 848,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000395604.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002749.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Pro283Leu",
"transcript": "ENST00000395604.8",
"protein_id": "ENSP00000378968.3",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 816,
"cds_start": 848,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002749.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395604.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Pro283Leu",
"transcript": "ENST00000308406.9",
"protein_id": "ENSP00000311005.5",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 816,
"cds_start": 848,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308406.9"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Pro283Leu",
"transcript": "ENST00000395602.8",
"protein_id": "ENSP00000378966.4",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 816,
"cds_start": 848,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395602.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.431C>T",
"hgvs_p": "p.Pro144Leu",
"transcript": "ENST00000299612.11",
"protein_id": "ENSP00000299612.7",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 677,
"cds_start": 431,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299612.11"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Pro283Leu",
"transcript": "NM_139033.3",
"protein_id": "NP_620602.2",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 816,
"cds_start": 848,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139033.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Pro283Leu",
"transcript": "NM_139034.3",
"protein_id": "NP_620603.2",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 816,
"cds_start": 848,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139034.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Pro283Leu",
"transcript": "ENST00000885402.1",
"protein_id": "ENSP00000555461.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 816,
"cds_start": 848,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885402.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Pro283Leu",
"transcript": "ENST00000885403.1",
"protein_id": "ENSP00000555462.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 816,
"cds_start": 848,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885403.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Pro283Leu",
"transcript": "ENST00000885404.1",
"protein_id": "ENSP00000555463.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 816,
"cds_start": 848,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885404.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Pro283Leu",
"transcript": "ENST00000885405.1",
"protein_id": "ENSP00000555464.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 816,
"cds_start": 848,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885405.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Pro283Leu",
"transcript": "ENST00000885406.1",
"protein_id": "ENSP00000555465.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 816,
"cds_start": 848,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885406.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.431C>T",
"hgvs_p": "p.Pro144Leu",
"transcript": "NM_139032.3",
"protein_id": "NP_620601.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 677,
"cds_start": 431,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139032.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.431C>T",
"hgvs_p": "p.Pro144Leu",
"transcript": "ENST00000482850.1",
"protein_id": "ENSP00000458146.1",
"transcript_support_level": 2,
"aa_start": 144,
"aa_end": null,
"aa_length": 194,
"cds_start": 431,
"cds_end": null,
"cds_length": 587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000482850.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.866C>T",
"hgvs_p": "p.Pro289Leu",
"transcript": "XM_006721557.4",
"protein_id": "XP_006721620.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 822,
"cds_start": 866,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721557.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.866C>T",
"hgvs_p": "p.Pro289Leu",
"transcript": "XM_006721558.4",
"protein_id": "XP_006721621.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 822,
"cds_start": 866,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721558.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.866C>T",
"hgvs_p": "p.Pro289Leu",
"transcript": "XM_006721559.4",
"protein_id": "XP_006721622.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 822,
"cds_start": 866,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721559.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.866C>T",
"hgvs_p": "p.Pro289Leu",
"transcript": "XM_047436401.1",
"protein_id": "XP_047292357.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 822,
"cds_start": 866,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436401.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.866C>T",
"hgvs_p": "p.Pro289Leu",
"transcript": "XM_047436402.1",
"protein_id": "XP_047292358.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 822,
"cds_start": 866,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436402.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.866C>T",
"hgvs_p": "p.Pro289Leu",
"transcript": "XM_047436403.1",
"protein_id": "XP_047292359.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 822,
"cds_start": 866,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436403.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Pro283Leu",
"transcript": "XM_047436404.1",
"protein_id": "XP_047292360.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 816,
"cds_start": 848,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436404.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Pro283Leu",
"transcript": "XM_047436405.1",
"protein_id": "XP_047292361.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 816,
"cds_start": 848,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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],
"gene_symbol": "MAPK7",
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"dbsnp": "rs770842877",
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"hom_count_reference_population": 0,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2610246539115906,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.164,
"revel_prediction": "Benign",
"alphamissense_score": 0.1328,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.271,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
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"BS2_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_002749.4",
"gene_symbol": "MAPK7",
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"effects": [
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],
"inheritance_mode": "AD",
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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
}