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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: X-154399848-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154399848&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RPL10",
"hgnc_id": 10298,
"hgvs_c": "c.236G>T",
"hgvs_p": "p.Ser79Ile",
"inheritance_mode": "XL,Unknown",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001256577.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.5221,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.05,
"chr": "X",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5252692699432373,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 214,
"aa_ref": "S",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2164,
"cdna_start": 277,
"cds_end": null,
"cds_length": 645,
"cds_start": 236,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_006013.5",
"gene_hgnc_id": 10298,
"gene_symbol": "RPL10",
"hgvs_c": "c.236G>T",
"hgvs_p": "p.Ser79Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369817.7",
"protein_coding": true,
"protein_id": "NP_006004.3",
"strand": true,
"transcript": "NM_006013.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 214,
"aa_ref": "S",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2164,
"cdna_start": 277,
"cds_end": null,
"cds_length": 645,
"cds_start": 236,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000369817.7",
"gene_hgnc_id": 10298,
"gene_symbol": "RPL10",
"hgvs_c": "c.236G>T",
"hgvs_p": "p.Ser79Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006013.5",
"protein_coding": true,
"protein_id": "ENSP00000358832.2",
"strand": true,
"transcript": "ENST00000369817.7",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 214,
"aa_ref": "S",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2278,
"cdna_start": 384,
"cds_end": null,
"cds_length": 645,
"cds_start": 236,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000344746.8",
"gene_hgnc_id": 10298,
"gene_symbol": "RPL10",
"hgvs_c": "c.236G>T",
"hgvs_p": "p.Ser79Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341730.4",
"strand": true,
"transcript": "ENST00000344746.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 180,
"aa_ref": "S",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 585,
"cdna_start": 276,
"cds_end": null,
"cds_length": 545,
"cds_start": 236,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000458500.5",
"gene_hgnc_id": 10298,
"gene_symbol": "RPL10",
"hgvs_c": "c.236G>T",
"hgvs_p": "p.Ser79Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395025.1",
"strand": true,
"transcript": "ENST00000458500.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 108,
"aa_ref": "S",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 713,
"cdna_start": 185,
"cds_end": null,
"cds_length": 327,
"cds_start": 185,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000451365.1",
"gene_hgnc_id": 10298,
"gene_symbol": "RPL10",
"hgvs_c": "c.185G>T",
"hgvs_p": "p.Ser62Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000406125.1",
"strand": true,
"transcript": "ENST00000451365.1",
"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": 1731,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000482732.1",
"gene_hgnc_id": 10298,
"gene_symbol": "RPL10",
"hgvs_c": "n.666G>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": "ENST00000482732.1",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 216,
"aa_ref": "S",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2320,
"cdna_start": 589,
"cds_end": null,
"cds_length": 651,
"cds_start": 236,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001256577.2",
"gene_hgnc_id": 10298,
"gene_symbol": "RPL10",
"hgvs_c": "c.236G>T",
"hgvs_p": "p.Ser79Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243506.2",
"strand": true,
"transcript": "NM_001256577.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 214,
"aa_ref": "S",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2266,
"cdna_start": 379,
"cds_end": null,
"cds_length": 645,
"cds_start": 236,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001303624.2",
"gene_hgnc_id": 10298,
"gene_symbol": "RPL10",
"hgvs_c": "c.236G>T",
"hgvs_p": "p.Ser79Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001290553.1",
"strand": true,
"transcript": "NM_001303624.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 214,
"aa_ref": "S",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2487,
"cdna_start": 593,
"cds_end": null,
"cds_length": 645,
"cds_start": 236,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001303625.1",
"gene_hgnc_id": 10298,
"gene_symbol": "RPL10",
"hgvs_c": "c.236G>T",
"hgvs_p": "p.Ser79Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001290554.1",
"strand": true,
"transcript": "NM_001303625.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 214,
"aa_ref": "S",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 900,
"cdna_start": 428,
"cds_end": null,
"cds_length": 645,
"cds_start": 236,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000890573.1",
"gene_hgnc_id": 10298,
"gene_symbol": "RPL10",
"hgvs_c": "c.236G>T",
"hgvs_p": "p.Ser79Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560632.1",
"strand": true,
"transcript": "ENST00000890573.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 214,
"aa_ref": "S",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 859,
"cdna_start": 387,
"cds_end": null,
"cds_length": 645,
"cds_start": 236,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000948710.1",
"gene_hgnc_id": 10298,
"gene_symbol": "RPL10",
"hgvs_c": "c.236G>T",
"hgvs_p": "p.Ser79Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618769.1",
"strand": true,
"transcript": "ENST00000948710.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 209,
"aa_ref": "S",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 775,
"cdna_start": 318,
"cds_end": null,
"cds_length": 630,
"cds_start": 236,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000890574.1",
"gene_hgnc_id": 10298,
"gene_symbol": "RPL10",
"hgvs_c": "c.236G>T",
"hgvs_p": "p.Ser79Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560633.1",
"strand": true,
"transcript": "ENST00000890574.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 209,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 728,
"cdna_start": 276,
"cds_end": null,
"cds_length": 630,
"cds_start": 236,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000890576.1",
"gene_hgnc_id": 10298,
"gene_symbol": "RPL10",
"hgvs_c": "c.236G>T",
"hgvs_p": "p.Ser79Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560635.1",
"strand": true,
"transcript": "ENST00000890576.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 209,
"aa_ref": "S",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 738,
"cdna_start": 281,
"cds_end": null,
"cds_length": 630,
"cds_start": 236,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000915661.1",
"gene_hgnc_id": 10298,
"gene_symbol": "RPL10",
"hgvs_c": "c.236G>T",
"hgvs_p": "p.Ser79Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585720.1",
"strand": true,
"transcript": "ENST00000915661.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 208,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 730,
"cdna_start": 276,
"cds_end": null,
"cds_length": 627,
"cds_start": 236,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915663.1",
"gene_hgnc_id": 10298,
"gene_symbol": "RPL10",
"hgvs_c": "c.236G>T",
"hgvs_p": "p.Ser79Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585722.1",
"strand": true,
"transcript": "ENST00000915663.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 207,
"aa_ref": "S",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 830,
"cdna_start": 379,
"cds_end": null,
"cds_length": 624,
"cds_start": 236,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915662.1",
"gene_hgnc_id": 10298,
"gene_symbol": "RPL10",
"hgvs_c": "c.236G>T",
"hgvs_p": "p.Ser79Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585721.1",
"strand": true,
"transcript": "ENST00000915662.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 203,
"aa_ref": "S",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 714,
"cdna_start": 276,
"cds_end": null,
"cds_length": 612,
"cds_start": 236,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915664.1",
"gene_hgnc_id": 10298,
"gene_symbol": "RPL10",
"hgvs_c": "c.236G>T",
"hgvs_p": "p.Ser79Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585723.1",
"strand": true,
"transcript": "ENST00000915664.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 199,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 657,
"cdna_start": 291,
"cds_end": null,
"cds_length": 602,
"cds_start": 236,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000436473.5",
"gene_hgnc_id": 10298,
"gene_symbol": "RPL10",
"hgvs_c": "c.236G>T",
"hgvs_p": "p.Ser79Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388600.1",
"strand": true,
"transcript": "ENST00000436473.5",
"transcript_support_level": 2
},
{
"aa_alt": "I",
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"aa_length": 198,
"aa_ref": "S",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 701,
"cdna_start": 277,
"cds_end": null,
"cds_length": 597,
"cds_start": 236,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000890575.1",
"gene_hgnc_id": 10298,
"gene_symbol": "RPL10",
"hgvs_c": "c.236G>T",
"hgvs_p": "p.Ser79Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560634.1",
"strand": true,
"transcript": "ENST00000890575.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 178,
"aa_ref": "S",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2375,
"cdna_start": 481,
"cds_end": null,
"cds_length": 537,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001256580.2",
"gene_hgnc_id": 10298,
"gene_symbol": "RPL10",
"hgvs_c": "c.128G>T",
"hgvs_p": "p.Ser43Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243509.2",
"strand": true,
"transcript": "NM_001256580.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 178,
"aa_ref": "S",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 622,
"cdna_start": 151,
"cds_end": null,
"cds_length": 537,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000890577.1",
"gene_hgnc_id": 10298,
"gene_symbol": "RPL10",
"hgvs_c": "c.128G>T",
"hgvs_p": "p.Ser43Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560636.1",
"strand": true,
"transcript": "ENST00000890577.1",
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