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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: 2-127637923-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=127637923&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "MYO7B",
"hgnc_id": 7607,
"hgvs_c": "c.*506C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001393586.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 8912,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.95,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.949999988079071,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2142,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6910,
"cdna_start": null,
"cds_end": null,
"cds_length": 6429,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001393586.1",
"gene_hgnc_id": 7607,
"gene_symbol": "MYO7B",
"hgvs_c": "c.*506C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000409816.8",
"protein_coding": true,
"protein_id": "NP_001380515.1",
"strand": true,
"transcript": "NM_001393586.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2142,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6910,
"cdna_start": null,
"cds_end": null,
"cds_length": 6429,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409816.8",
"gene_hgnc_id": 7607,
"gene_symbol": "MYO7B",
"hgvs_c": "c.*506C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001393586.1",
"protein_coding": true,
"protein_id": "ENSP00000386461.3",
"strand": true,
"transcript": "ENST00000409816.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 969,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3567,
"cdna_start": null,
"cds_end": null,
"cds_length": 2910,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409090.1",
"gene_hgnc_id": 7607,
"gene_symbol": "MYO7B",
"hgvs_c": "c.*506C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386850.1",
"strand": true,
"transcript": "ENST00000409090.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4922,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000496841.5",
"gene_hgnc_id": 7607,
"gene_symbol": "MYO7B",
"hgvs_c": "n.*194C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000496841.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2141,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6905,
"cdna_start": null,
"cds_end": null,
"cds_length": 6426,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897059.1",
"gene_hgnc_id": 7607,
"gene_symbol": "MYO7B",
"hgvs_c": "c.*506C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567118.1",
"strand": true,
"transcript": "ENST00000897059.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2116,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6832,
"cdna_start": null,
"cds_end": null,
"cds_length": 6351,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001080527.2",
"gene_hgnc_id": 7607,
"gene_symbol": "MYO7B",
"hgvs_c": "c.*506C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001073996.1",
"strand": true,
"transcript": "NM_001080527.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2116,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6715,
"cdna_start": null,
"cds_end": null,
"cds_length": 6351,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000428314.5",
"gene_hgnc_id": 7607,
"gene_symbol": "MYO7B",
"hgvs_c": "c.*506C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415090.1",
"strand": true,
"transcript": "ENST00000428314.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2110,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6814,
"cdna_start": null,
"cds_end": null,
"cds_length": 6333,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897058.1",
"gene_hgnc_id": 7607,
"gene_symbol": "MYO7B",
"hgvs_c": "c.*506C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567117.1",
"strand": true,
"transcript": "ENST00000897058.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 969,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3588,
"cdna_start": null,
"cds_end": null,
"cds_length": 2910,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001393594.1",
"gene_hgnc_id": 7607,
"gene_symbol": "MYO7B",
"hgvs_c": "c.*506C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380523.1",
"strand": true,
"transcript": "NM_001393594.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2298,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7378,
"cdna_start": null,
"cds_end": null,
"cds_length": 6897,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 46,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047444435.1",
"gene_hgnc_id": 7607,
"gene_symbol": "MYO7B",
"hgvs_c": "c.*506C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300391.1",
"strand": true,
"transcript": "XM_047444435.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 7369,
"cdna_start": null,
"cds_end": null,
"cds_length": 6888,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 46,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047444436.1",
"gene_hgnc_id": 7607,
"gene_symbol": "MYO7B",
"hgvs_c": "c.*506C>T",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300392.1",
"strand": true,
"transcript": "XM_047444436.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7321,
"cdna_start": null,
"cds_end": null,
"cds_length": 6840,
"cds_start": null,
"consequences": [
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],
"exon_count": 47,
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"feature": "XM_047444437.1",
"gene_hgnc_id": 7607,
"gene_symbol": "MYO7B",
"hgvs_c": "c.*506C>T",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300393.1",
"strand": true,
"transcript": "XM_047444437.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_end": null,
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"consequences": [
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],
"exon_count": 45,
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"feature": "XM_047444438.1",
"gene_hgnc_id": 7607,
"gene_symbol": "MYO7B",
"hgvs_c": "c.*506C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047300394.1",
"strand": true,
"transcript": "XM_047444438.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6976,
"cdna_start": null,
"cds_end": null,
"cds_length": 6495,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017004169.2",
"gene_hgnc_id": 7607,
"gene_symbol": "MYO7B",
"hgvs_c": "c.*506C>T",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016859658.1",
"strand": true,
"transcript": "XM_017004169.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cds_end": null,
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"consequences": [
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],
"exon_count": 48,
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"feature": "XM_011511218.3",
"gene_hgnc_id": 7607,
"gene_symbol": "MYO7B",
"hgvs_c": "c.*506C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011509520.1",
"strand": true,
"transcript": "XM_011511218.3",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3949,
"cdna_start": null,
"cds_end": null,
"cds_length": 3369,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047444440.1",
"gene_hgnc_id": 7607,
"gene_symbol": "MYO7B",
"hgvs_c": "c.*506C>T",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300396.1",
"strand": true,
"transcript": "XM_047444440.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3892,
"cdna_start": null,
"cds_end": null,
"cds_length": 3312,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047444441.1",
"gene_hgnc_id": 7607,
"gene_symbol": "MYO7B",
"hgvs_c": "c.*506C>T",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047300397.1",
"strand": true,
"transcript": "XM_047444441.1",
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},
{
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"biotype": "retained_intron",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000491278.5",
"gene_hgnc_id": 7607,
"gene_symbol": "MYO7B",
"hgvs_c": "n.*198C>T",
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000491278.5",
"transcript_support_level": 2
},
{
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"biotype": "retained_intron",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000494959.1",
"gene_hgnc_id": 7607,
"gene_symbol": "MYO7B",
"hgvs_c": "n.*227C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000494959.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2288657",
"effect": "downstream_gene_variant",
"frequency_reference_population": 0.05852992,
"gene_hgnc_id": 7607,
"gene_symbol": "MYO7B",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": 8912,
"gnomad_genomes_af": 0.0585299,
"gnomad_genomes_homalt": 327,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 327,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.135,
"pos": 127637923,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001393586.1"
}
]
}