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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: 12-93479392-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=93479392&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 93479392,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014050.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL42",
"gene_hgnc_id": 14493,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Val47Ile",
"transcript": "NM_014050.4",
"protein_id": "NP_054769.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 142,
"cds_start": 139,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000549982.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014050.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL42",
"gene_hgnc_id": 14493,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Val47Ile",
"transcript": "ENST00000549982.6",
"protein_id": "ENSP00000449884.1",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 142,
"cds_start": 139,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014050.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549982.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL42",
"gene_hgnc_id": 14493,
"hgvs_c": "n.*88G>A",
"hgvs_p": null,
"transcript": "ENST00000358678.7",
"protein_id": "ENSP00000351506.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000358678.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL42",
"gene_hgnc_id": 14493,
"hgvs_c": "n.*88G>A",
"hgvs_p": null,
"transcript": "ENST00000358678.7",
"protein_id": "ENSP00000351506.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000358678.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "MRPL42",
"gene_hgnc_id": 14493,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Val47Ile",
"transcript": "ENST00000873991.1",
"protein_id": "ENSP00000544050.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 187,
"cds_start": 139,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873991.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "MRPL42",
"gene_hgnc_id": 14493,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Val47Ile",
"transcript": "ENST00000873992.1",
"protein_id": "ENSP00000544051.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 187,
"cds_start": 139,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873992.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL42",
"gene_hgnc_id": 14493,
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Val74Ile",
"transcript": "ENST00000919742.1",
"protein_id": "ENSP00000589801.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 169,
"cds_start": 220,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919742.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL42",
"gene_hgnc_id": 14493,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Val47Ile",
"transcript": "ENST00000547098.5",
"protein_id": "ENSP00000473798.1",
"transcript_support_level": 3,
"aa_start": 47,
"aa_end": null,
"aa_length": 155,
"cds_start": 139,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547098.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL42",
"gene_hgnc_id": 14493,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Val47Ile",
"transcript": "ENST00000919741.1",
"protein_id": "ENSP00000589800.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 148,
"cds_start": 139,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919741.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL42",
"gene_hgnc_id": 14493,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Val47Ile",
"transcript": "NM_172177.5",
"protein_id": "NP_751917.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 142,
"cds_start": 139,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172177.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL42",
"gene_hgnc_id": 14493,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Val47Ile",
"transcript": "ENST00000552217.6",
"protein_id": "ENSP00000447547.1",
"transcript_support_level": 2,
"aa_start": 47,
"aa_end": null,
"aa_length": 142,
"cds_start": 139,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552217.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL42",
"gene_hgnc_id": 14493,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Val47Ile",
"transcript": "ENST00000873993.1",
"protein_id": "ENSP00000544052.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 142,
"cds_start": 139,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873993.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL42",
"gene_hgnc_id": 14493,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Val47Ile",
"transcript": "ENST00000873995.1",
"protein_id": "ENSP00000544054.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 142,
"cds_start": 139,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873995.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL42",
"gene_hgnc_id": 14493,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Val47Ile",
"transcript": "ENST00000873996.1",
"protein_id": "ENSP00000544055.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 142,
"cds_start": 139,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873996.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL42",
"gene_hgnc_id": 14493,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Val47Ile",
"transcript": "ENST00000873997.1",
"protein_id": "ENSP00000544056.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 142,
"cds_start": 139,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873997.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL42",
"gene_hgnc_id": 14493,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Val47Ile",
"transcript": "ENST00000873998.1",
"protein_id": "ENSP00000544057.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 142,
"cds_start": 139,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873998.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL42",
"gene_hgnc_id": 14493,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Val47Ile",
"transcript": "ENST00000919736.1",
"protein_id": "ENSP00000589795.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 142,
"cds_start": 139,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919736.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL42",
"gene_hgnc_id": 14493,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Val47Ile",
"transcript": "ENST00000919737.1",
"protein_id": "ENSP00000589796.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 142,
"cds_start": 139,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919737.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL42",
"gene_hgnc_id": 14493,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Val47Ile",
"transcript": "ENST00000919738.1",
"protein_id": "ENSP00000589797.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 142,
"cds_start": 139,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919738.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL42",
"gene_hgnc_id": 14493,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Val47Ile",
"transcript": "ENST00000919739.1",
"protein_id": "ENSP00000589798.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 142,
"cds_start": 139,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919739.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL42",
"gene_hgnc_id": 14493,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Val47Ile",
"transcript": "ENST00000919740.1",
"protein_id": "ENSP00000589799.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 142,
"cds_start": 139,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919740.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL42",
"gene_hgnc_id": 14493,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Val47Ile",
"transcript": "ENST00000919743.1",
"protein_id": "ENSP00000589802.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 142,
"cds_start": 139,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919743.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
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],
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"gnomad_mito_heteroplasmic": null,
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"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.437,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1731,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.797,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
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"verdict": "Uncertain_significance",
"transcript": "NM_014050.4",
"gene_symbol": "MRPL42",
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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
}