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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: 6-84055388-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=84055388&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": "MRAP2",
"hgnc_id": 21232,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_138409.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Uncertain_significance",
"alphamissense_score": 0.4145,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.01,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5339218974113464,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 205,
"aa_ref": "E",
"aa_start": 24,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2137,
"cdna_start": 189,
"cds_end": null,
"cds_length": 618,
"cds_start": 70,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_138409.4",
"gene_hgnc_id": 21232,
"gene_symbol": "MRAP2",
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000257776.5",
"protein_coding": true,
"protein_id": "NP_612418.2",
"strand": true,
"transcript": "NM_138409.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 205,
"aa_ref": "E",
"aa_start": 24,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2137,
"cdna_start": 189,
"cds_end": null,
"cds_length": 618,
"cds_start": 70,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000257776.5",
"gene_hgnc_id": 21232,
"gene_symbol": "MRAP2",
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_138409.4",
"protein_coding": true,
"protein_id": "ENSP00000257776.4",
"strand": true,
"transcript": "ENST00000257776.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 263,
"aa_ref": "E",
"aa_start": 24,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2256,
"cdna_start": 135,
"cds_end": null,
"cds_length": 792,
"cds_start": 70,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000968914.1",
"gene_hgnc_id": 21232,
"gene_symbol": "MRAP2",
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638973.1",
"strand": true,
"transcript": "ENST00000968914.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 205,
"aa_ref": "E",
"aa_start": 24,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2381,
"cdna_start": 433,
"cds_end": null,
"cds_length": 618,
"cds_start": 70,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001346542.2",
"gene_hgnc_id": 21232,
"gene_symbol": "MRAP2",
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333471.1",
"strand": true,
"transcript": "NM_001346542.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 205,
"aa_ref": "E",
"aa_start": 24,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2139,
"cdna_start": 191,
"cds_end": null,
"cds_length": 618,
"cds_start": 70,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001346544.2",
"gene_hgnc_id": 21232,
"gene_symbol": "MRAP2",
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333473.1",
"strand": true,
"transcript": "NM_001346544.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 205,
"aa_ref": "E",
"aa_start": 24,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2468,
"cdna_start": 514,
"cds_end": null,
"cds_length": 618,
"cds_start": 70,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000855322.1",
"gene_hgnc_id": 21232,
"gene_symbol": "MRAP2",
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525381.1",
"strand": true,
"transcript": "ENST00000855322.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 205,
"aa_ref": "E",
"aa_start": 24,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2140,
"cdna_start": 192,
"cds_end": null,
"cds_length": 618,
"cds_start": 70,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000855323.1",
"gene_hgnc_id": 21232,
"gene_symbol": "MRAP2",
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525382.1",
"strand": true,
"transcript": "ENST00000855323.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 205,
"aa_ref": "E",
"aa_start": 24,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2184,
"cdna_start": 236,
"cds_end": null,
"cds_length": 618,
"cds_start": 70,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000855324.1",
"gene_hgnc_id": 21232,
"gene_symbol": "MRAP2",
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525383.1",
"strand": true,
"transcript": "ENST00000855324.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 205,
"aa_ref": "E",
"aa_start": 24,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2299,
"cdna_start": 349,
"cds_end": null,
"cds_length": 618,
"cds_start": 70,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000855325.1",
"gene_hgnc_id": 21232,
"gene_symbol": "MRAP2",
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525384.1",
"strand": true,
"transcript": "ENST00000855325.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 205,
"aa_ref": "E",
"aa_start": 24,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2261,
"cdna_start": 313,
"cds_end": null,
"cds_length": 618,
"cds_start": 70,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000855326.1",
"gene_hgnc_id": 21232,
"gene_symbol": "MRAP2",
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525385.1",
"strand": true,
"transcript": "ENST00000855326.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 205,
"aa_ref": "E",
"aa_start": 24,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4066,
"cdna_start": 2118,
"cds_end": null,
"cds_length": 618,
"cds_start": 70,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000855327.1",
"gene_hgnc_id": 21232,
"gene_symbol": "MRAP2",
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525386.1",
"strand": true,
"transcript": "ENST00000855327.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 205,
"aa_ref": "E",
"aa_start": 24,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2199,
"cdna_start": 245,
"cds_end": null,
"cds_length": 618,
"cds_start": 70,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000930238.1",
"gene_hgnc_id": 21232,
"gene_symbol": "MRAP2",
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600297.1",
"strand": true,
"transcript": "ENST00000930238.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 205,
"aa_ref": "E",
"aa_start": 24,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2153,
"cdna_start": 199,
"cds_end": null,
"cds_length": 618,
"cds_start": 70,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000930239.1",
"gene_hgnc_id": 21232,
"gene_symbol": "MRAP2",
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600298.1",
"strand": true,
"transcript": "ENST00000930239.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 205,
"aa_ref": "E",
"aa_start": 24,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2122,
"cdna_start": 174,
"cds_end": null,
"cds_length": 618,
"cds_start": 70,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000930240.1",
"gene_hgnc_id": 21232,
"gene_symbol": "MRAP2",
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600299.1",
"strand": true,
"transcript": "ENST00000930240.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 205,
"aa_ref": "E",
"aa_start": 24,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2073,
"cdna_start": 128,
"cds_end": null,
"cds_length": 618,
"cds_start": 70,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000968915.1",
"gene_hgnc_id": 21232,
"gene_symbol": "MRAP2",
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638974.1",
"strand": true,
"transcript": "ENST00000968915.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 263,
"aa_ref": "E",
"aa_start": 24,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2311,
"cdna_start": 189,
"cds_end": null,
"cds_length": 792,
"cds_start": 70,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047418132.1",
"gene_hgnc_id": 21232,
"gene_symbol": "MRAP2",
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274088.1",
"strand": true,
"transcript": "XM_047418132.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 205,
"aa_ref": "E",
"aa_start": 24,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2218,
"cdna_start": 270,
"cds_end": null,
"cds_length": 618,
"cds_start": 70,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017010220.2",
"gene_hgnc_id": 21232,
"gene_symbol": "MRAP2",
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865709.1",
"strand": true,
"transcript": "XM_017010220.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 154,
"aa_ref": "E",
"aa_start": 24,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 911,
"cdna_start": 189,
"cds_end": null,
"cds_length": 465,
"cds_start": 70,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017010221.3",
"gene_hgnc_id": 21232,
"gene_symbol": "MRAP2",
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865710.1",
"strand": true,
"transcript": "XM_017010221.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 150,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2231,
"cdna_start": null,
"cds_end": null,
"cds_length": 453,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001346543.2",
"gene_hgnc_id": 21232,
"gene_symbol": "MRAP2",
"hgvs_c": "c.-190G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333472.1",
"strand": true,
"transcript": "NM_001346543.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 119,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2037,
"cdna_start": null,
"cds_end": null,
"cds_length": 360,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001346541.2",
"gene_hgnc_id": 21232,
"gene_symbol": "MRAP2",
"hgvs_c": "c.-89G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333470.1",
"strand": true,
"transcript": "NM_001346541.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs587777046",
"effect": "missense_variant",
"frequency_reference_population": 6.8439243e-7,
"gene_hgnc_id": 21232,
"gene_symbol": "MRAP2",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84392e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.314,
"pos": 84055388,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.52,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_138409.4"
}
]
}