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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: 12-120198675-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=120198675&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RPLP0",
"hgnc_id": 10371,
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Met177Thr",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001002.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9955,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.39,
"chr": "12",
"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": 0.6572493314743042,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 317,
"aa_ref": "M",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1105,
"cdna_start": 607,
"cds_end": null,
"cds_length": 954,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001002.4",
"gene_hgnc_id": 10371,
"gene_symbol": "RPLP0",
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Met177Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000392514.9",
"protein_coding": true,
"protein_id": "NP_000993.1",
"strand": false,
"transcript": "NM_001002.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 317,
"aa_ref": "M",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1105,
"cdna_start": 607,
"cds_end": null,
"cds_length": 954,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000392514.9",
"gene_hgnc_id": 10371,
"gene_symbol": "RPLP0",
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Met177Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001002.4",
"protein_coding": true,
"protein_id": "ENSP00000376299.4",
"strand": false,
"transcript": "ENST00000392514.9",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 317,
"aa_ref": "M",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1257,
"cdna_start": 767,
"cds_end": null,
"cds_length": 954,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000228306.8",
"gene_hgnc_id": 10371,
"gene_symbol": "RPLP0",
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Met177Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000339027.3",
"strand": false,
"transcript": "ENST00000228306.8",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 317,
"aa_ref": "M",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1344,
"cdna_start": 846,
"cds_end": null,
"cds_length": 954,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000551150.5",
"gene_hgnc_id": 10371,
"gene_symbol": "RPLP0",
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Met177Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000449328.1",
"strand": false,
"transcript": "ENST00000551150.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 255,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 912,
"cdna_start": null,
"cds_end": null,
"cds_length": 768,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000313104.9",
"gene_hgnc_id": 10371,
"gene_symbol": "RPLP0",
"hgvs_c": "c.465+179T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366471.4",
"strand": false,
"transcript": "ENST00000313104.9",
"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": 1127,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000548568.5",
"gene_hgnc_id": 10371,
"gene_symbol": "RPLP0",
"hgvs_c": "n.810T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000548568.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 317,
"aa_ref": "M",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1165,
"cdna_start": 667,
"cds_end": null,
"cds_length": 954,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_053275.4",
"gene_hgnc_id": 10371,
"gene_symbol": "RPLP0",
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Met177Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_444505.1",
"strand": false,
"transcript": "NM_053275.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 317,
"aa_ref": "M",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1205,
"cdna_start": 707,
"cds_end": null,
"cds_length": 954,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000874749.1",
"gene_hgnc_id": 10371,
"gene_symbol": "RPLP0",
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Met177Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544808.1",
"strand": false,
"transcript": "ENST00000874749.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 317,
"aa_ref": "M",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1202,
"cdna_start": 707,
"cds_end": null,
"cds_length": 954,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000926182.1",
"gene_hgnc_id": 10371,
"gene_symbol": "RPLP0",
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Met177Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596241.1",
"strand": false,
"transcript": "ENST00000926182.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 317,
"aa_ref": "M",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1110,
"cdna_start": 613,
"cds_end": null,
"cds_length": 954,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000971889.1",
"gene_hgnc_id": 10371,
"gene_symbol": "RPLP0",
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Met177Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641948.1",
"strand": false,
"transcript": "ENST00000971889.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 315,
"aa_ref": "M",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1086,
"cdna_start": 602,
"cds_end": null,
"cds_length": 948,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000874756.1",
"gene_hgnc_id": 10371,
"gene_symbol": "RPLP0",
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Met177Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544815.1",
"strand": false,
"transcript": "ENST00000874756.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 313,
"aa_ref": "M",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1090,
"cdna_start": 592,
"cds_end": null,
"cds_length": 942,
"cds_start": 518,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000874750.1",
"gene_hgnc_id": 10371,
"gene_symbol": "RPLP0",
"hgvs_c": "c.518T>C",
"hgvs_p": "p.Met173Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544809.1",
"strand": false,
"transcript": "ENST00000874750.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 306,
"aa_ref": "M",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1072,
"cdna_start": 607,
"cds_end": null,
"cds_length": 921,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000926183.1",
"gene_hgnc_id": 10371,
"gene_symbol": "RPLP0",
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Met177Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596242.1",
"strand": false,
"transcript": "ENST00000926183.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 306,
"aa_ref": "M",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1128,
"cdna_start": 666,
"cds_end": null,
"cds_length": 921,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000926187.1",
"gene_hgnc_id": 10371,
"gene_symbol": "RPLP0",
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Met177Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596246.1",
"strand": false,
"transcript": "ENST00000926187.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 297,
"aa_ref": "M",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1033,
"cdna_start": 544,
"cds_end": null,
"cds_length": 894,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000874755.1",
"gene_hgnc_id": 10371,
"gene_symbol": "RPLP0",
"hgvs_c": "c.470T>C",
"hgvs_p": "p.Met157Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544814.1",
"strand": false,
"transcript": "ENST00000874755.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 296,
"aa_ref": "M",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1038,
"cdna_start": 540,
"cds_end": null,
"cds_length": 891,
"cds_start": 467,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000874751.1",
"gene_hgnc_id": 10371,
"gene_symbol": "RPLP0",
"hgvs_c": "c.467T>C",
"hgvs_p": "p.Met156Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544810.1",
"strand": false,
"transcript": "ENST00000874751.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 284,
"aa_ref": "M",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1000,
"cdna_start": 505,
"cds_end": null,
"cds_length": 855,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000926192.1",
"gene_hgnc_id": 10371,
"gene_symbol": "RPLP0",
"hgvs_c": "c.431T>C",
"hgvs_p": "p.Met144Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596251.1",
"strand": false,
"transcript": "ENST00000926192.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 284,
"aa_ref": "M",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1055,
"cdna_start": 568,
"cds_end": null,
"cds_length": 855,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000926197.1",
"gene_hgnc_id": 10371,
"gene_symbol": "RPLP0",
"hgvs_c": "c.431T>C",
"hgvs_p": "p.Met144Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596256.1",
"strand": false,
"transcript": "ENST00000926197.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 270,
"aa_ref": "M",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 958,
"cdna_start": 604,
"cds_end": null,
"cds_length": 813,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000926193.1",
"gene_hgnc_id": 10371,
"gene_symbol": "RPLP0",
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Met177Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596252.1",
"strand": false,
"transcript": "ENST00000926193.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 246,
"aa_ref": "M",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1003,
"cdna_start": 791,
"cds_end": null,
"cds_length": 742,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000550856.5",
"gene_hgnc_id": 10371,
"gene_symbol": "RPLP0",
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Met177Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000448046.1",
"strand": false,
"transcript": "ENST00000550856.5",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 246,
"aa_ref": "M",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 948,
"cdna_start": 453,
"cds_end": null,
"cds_length": 741,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000926188.1",
"gene_hgnc_id": 10371,
"gene_symbol": "RPLP0",
"hgvs_c": "c.317T>C",
"hgvs_p": "p.Met106Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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