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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: 1-228106879-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=228106879&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MRPL55",
"hgnc_id": 16686,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_181462.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000299474",
"hgnc_id": null,
"hgvs_c": "n.361G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000763761.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 34,
"alphamissense_prediction": null,
"alphamissense_score": 0.1491,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4830455183982849,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 128,
"aa_ref": "R",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 738,
"cdna_start": 544,
"cds_end": null,
"cds_length": 387,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_181463.3",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000336520.8",
"protein_coding": true,
"protein_id": "NP_852128.1",
"strand": false,
"transcript": "NM_181463.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 128,
"aa_ref": "R",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 738,
"cdna_start": 544,
"cds_end": null,
"cds_length": 387,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000336520.8",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_181463.3",
"protein_coding": true,
"protein_id": "ENSP00000337342.3",
"strand": false,
"transcript": "ENST00000336520.8",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 164,
"aa_ref": "R",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 705,
"cdna_start": 505,
"cds_end": null,
"cds_length": 495,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000366738.5",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355699.1",
"strand": false,
"transcript": "ENST00000366738.5",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 128,
"aa_ref": "R",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1212,
"cdna_start": 1012,
"cds_end": null,
"cds_length": 387,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000366735.5",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355696.1",
"strand": false,
"transcript": "ENST00000366735.5",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 128,
"aa_ref": "R",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 565,
"cdna_start": 365,
"cds_end": null,
"cds_length": 387,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000366746.7",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355707.3",
"strand": false,
"transcript": "ENST00000366746.7",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 128,
"aa_ref": "R",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 603,
"cdna_start": 403,
"cds_end": null,
"cds_length": 387,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000366747.7",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355708.3",
"strand": false,
"transcript": "ENST00000366747.7",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 164,
"aa_ref": "R",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 846,
"cdna_start": 652,
"cds_end": null,
"cds_length": 495,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_181462.3",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_852127.2",
"strand": false,
"transcript": "NM_181462.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 164,
"aa_ref": "R",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 864,
"cdna_start": 665,
"cds_end": null,
"cds_length": 495,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000430433.5",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403614.1",
"strand": false,
"transcript": "ENST00000430433.5",
"transcript_support_level": 5
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 164,
"aa_ref": "R",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 735,
"cdna_start": 543,
"cds_end": null,
"cds_length": 495,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000877035.1",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547094.1",
"strand": false,
"transcript": "ENST00000877035.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 164,
"aa_ref": "R",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 847,
"cdna_start": 655,
"cds_end": null,
"cds_length": 495,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000877036.1",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547095.1",
"strand": false,
"transcript": "ENST00000877036.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 164,
"aa_ref": "R",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 732,
"cdna_start": 540,
"cds_end": null,
"cds_length": 495,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000877040.1",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547099.1",
"strand": false,
"transcript": "ENST00000877040.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 164,
"aa_ref": "R",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 859,
"cdna_start": 675,
"cds_end": null,
"cds_length": 495,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000877055.1",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547114.1",
"strand": false,
"transcript": "ENST00000877055.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 164,
"aa_ref": "R",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1258,
"cdna_start": 1068,
"cds_end": null,
"cds_length": 495,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000927950.1",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598009.1",
"strand": false,
"transcript": "ENST00000927950.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 164,
"aa_ref": "R",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 884,
"cdna_start": 690,
"cds_end": null,
"cds_length": 495,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000927953.1",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598012.1",
"strand": false,
"transcript": "ENST00000927953.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 164,
"aa_ref": "R",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 774,
"cdna_start": 582,
"cds_end": null,
"cds_length": 495,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000927958.1",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598017.1",
"strand": false,
"transcript": "ENST00000927958.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 164,
"aa_ref": "R",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 890,
"cdna_start": 699,
"cds_end": null,
"cds_length": 495,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000927968.1",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598027.1",
"strand": false,
"transcript": "ENST00000927968.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 164,
"aa_ref": "R",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 779,
"cdna_start": 587,
"cds_end": null,
"cds_length": 495,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000927982.1",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598041.1",
"strand": false,
"transcript": "ENST00000927982.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 164,
"aa_ref": "R",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1350,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 495,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000957207.1",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627266.1",
"strand": false,
"transcript": "ENST00000957207.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 128,
"aa_ref": "R",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 597,
"cdna_start": 403,
"cds_end": null,
"cds_length": 387,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001321284.2",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308213.1",
"strand": false,
"transcript": "NM_001321284.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 128,
"aa_ref": "R",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 671,
"cdna_start": 477,
"cds_end": null,
"cds_length": 387,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_181441.3",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_852106.1",
"strand": false,
"transcript": "NM_181441.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 128,
"aa_ref": "R",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 664,
"cdna_start": 470,
"cds_end": null,
"cds_length": 387,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 6,
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{
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]
}