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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: 1-228108050-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=228108050&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 228108050,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_181462.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Ala21Thr",
"transcript": "ENST00000366738.5",
"protein_id": "ENSP00000355699.1",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 164,
"cds_start": 61,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366738.5"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.27-181G>A",
"hgvs_p": null,
"transcript": "NM_181463.3",
"protein_id": "NP_852128.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 128,
"cds_start": null,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000336520.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181463.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.27-181G>A",
"hgvs_p": null,
"transcript": "ENST00000336520.8",
"protein_id": "ENSP00000337342.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 128,
"cds_start": null,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_181463.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336520.8"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.27-181G>A",
"hgvs_p": null,
"transcript": "ENST00000366735.5",
"protein_id": "ENSP00000355696.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 128,
"cds_start": null,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366735.5"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.27-181G>A",
"hgvs_p": null,
"transcript": "ENST00000366746.7",
"protein_id": "ENSP00000355707.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 128,
"cds_start": null,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366746.7"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.27-181G>A",
"hgvs_p": null,
"transcript": "ENST00000366747.7",
"protein_id": "ENSP00000355708.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 128,
"cds_start": null,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366747.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Ala21Thr",
"transcript": "NM_181462.3",
"protein_id": "NP_852127.2",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 164,
"cds_start": 61,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181462.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Ala21Thr",
"transcript": "ENST00000430433.5",
"protein_id": "ENSP00000403614.1",
"transcript_support_level": 5,
"aa_start": 21,
"aa_end": null,
"aa_length": 164,
"cds_start": 61,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430433.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Ala21Thr",
"transcript": "ENST00000877035.1",
"protein_id": "ENSP00000547094.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 164,
"cds_start": 61,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877035.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Ala21Thr",
"transcript": "ENST00000877036.1",
"protein_id": "ENSP00000547095.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 164,
"cds_start": 61,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877036.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Ala21Thr",
"transcript": "ENST00000877040.1",
"protein_id": "ENSP00000547099.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 164,
"cds_start": 61,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877040.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Ala21Thr",
"transcript": "ENST00000877055.1",
"protein_id": "ENSP00000547114.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 164,
"cds_start": 61,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877055.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Ala21Thr",
"transcript": "ENST00000927950.1",
"protein_id": "ENSP00000598009.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 164,
"cds_start": 61,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927950.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Ala21Thr",
"transcript": "ENST00000927953.1",
"protein_id": "ENSP00000598012.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 164,
"cds_start": 61,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927953.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Ala21Thr",
"transcript": "ENST00000927958.1",
"protein_id": "ENSP00000598017.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 164,
"cds_start": 61,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927958.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Ala21Thr",
"transcript": "ENST00000927968.1",
"protein_id": "ENSP00000598027.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 164,
"cds_start": 61,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927968.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Ala21Thr",
"transcript": "ENST00000927982.1",
"protein_id": "ENSP00000598041.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 164,
"cds_start": 61,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927982.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Ala21Thr",
"transcript": "ENST00000957207.1",
"protein_id": "ENSP00000627266.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 164,
"cds_start": 61,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957207.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.-267G>A",
"hgvs_p": null,
"transcript": "ENST00000366731.9",
"protein_id": "ENSP00000355692.6",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 55,
"cds_start": null,
"cds_end": null,
"cds_length": 168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366731.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.-267G>A",
"hgvs_p": null,
"transcript": "ENST00000459783.5",
"protein_id": "ENSP00000482290.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 55,
"cds_start": null,
"cds_end": null,
"cds_length": 168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000459783.5"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.27-181G>A",
"hgvs_p": null,
"transcript": "NM_001321284.2",
"protein_id": "NP_001308213.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 128,
"cds_start": null,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321284.2"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "MRPL55",
"gene_hgnc_id": 16686,
"hgvs_c": "c.27-181G>A",
"hgvs_p": null,
"transcript": "NM_181441.3",
"protein_id": "NP_852106.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 128,
"cds_start": null,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181441.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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],
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"computational_score_selected": 0.042505621910095215,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.01,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.557,
"phylop100way_prediction": "Benign",
"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": -4,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 0,
"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_181462.3",
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"effects": [
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],
"inheritance_mode": "AR",
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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
}