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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: 22-40405231-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=40405231&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SGSM3",
"hgnc_id": 25228,
"hgvs_c": "c.565C>G",
"hgvs_p": "p.Arg189Gly",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001350039.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000284431",
"hgnc_id": null,
"hgvs_c": "n.*1803C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000639722.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.934,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.01,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7600036859512329,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 749,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2986,
"cdna_start": 771,
"cds_end": null,
"cds_length": 2250,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_015705.6",
"gene_hgnc_id": 25228,
"gene_symbol": "SGSM3",
"hgvs_c": "c.565C>G",
"hgvs_p": "p.Arg189Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000248929.14",
"protein_coding": true,
"protein_id": "NP_056520.2",
"strand": true,
"transcript": "NM_015705.6",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 749,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2986,
"cdna_start": 771,
"cds_end": null,
"cds_length": 2250,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000248929.14",
"gene_hgnc_id": 25228,
"gene_symbol": "SGSM3",
"hgvs_c": "c.565C>G",
"hgvs_p": "p.Arg189Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015705.6",
"protein_coding": true,
"protein_id": "ENSP00000248929.8",
"strand": true,
"transcript": "ENST00000248929.14",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 4563,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 31,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000639722.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000284431",
"hgvs_c": "n.*1803C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492828.1",
"strand": true,
"transcript": "ENST00000639722.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 4563,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 31,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000639722.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000284431",
"hgvs_c": "n.*1803C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492828.1",
"strand": true,
"transcript": "ENST00000639722.1",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 772,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2847,
"cdna_start": 742,
"cds_end": null,
"cds_length": 2319,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000956266.1",
"gene_hgnc_id": 25228,
"gene_symbol": "SGSM3",
"hgvs_c": "c.565C>G",
"hgvs_p": "p.Arg189Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626325.1",
"strand": true,
"transcript": "ENST00000956266.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 766,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3037,
"cdna_start": 771,
"cds_end": null,
"cds_length": 2301,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001350039.2",
"gene_hgnc_id": 25228,
"gene_symbol": "SGSM3",
"hgvs_c": "c.565C>G",
"hgvs_p": "p.Arg189Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336968.1",
"strand": true,
"transcript": "NM_001350039.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 766,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3044,
"cdna_start": 779,
"cds_end": null,
"cds_length": 2301,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000851447.1",
"gene_hgnc_id": 25228,
"gene_symbol": "SGSM3",
"hgvs_c": "c.565C>G",
"hgvs_p": "p.Arg189Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521506.1",
"strand": true,
"transcript": "ENST00000851447.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 766,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2856,
"cdna_start": 769,
"cds_end": null,
"cds_length": 2301,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000956259.1",
"gene_hgnc_id": 25228,
"gene_symbol": "SGSM3",
"hgvs_c": "c.565C>G",
"hgvs_p": "p.Arg189Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626318.1",
"strand": true,
"transcript": "ENST00000956259.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 765,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2821,
"cdna_start": 739,
"cds_end": null,
"cds_length": 2298,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000851459.1",
"gene_hgnc_id": 25228,
"gene_symbol": "SGSM3",
"hgvs_c": "c.565C>G",
"hgvs_p": "p.Arg189Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521518.1",
"strand": true,
"transcript": "ENST00000851459.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 765,
"aa_ref": "R",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2826,
"cdna_start": 746,
"cds_end": null,
"cds_length": 2298,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000925009.1",
"gene_hgnc_id": 25228,
"gene_symbol": "SGSM3",
"hgvs_c": "c.562C>G",
"hgvs_p": "p.Arg188Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595068.1",
"strand": true,
"transcript": "ENST00000925009.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 765,
"aa_ref": "R",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2824,
"cdna_start": 744,
"cds_end": null,
"cds_length": 2298,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000956267.1",
"gene_hgnc_id": 25228,
"gene_symbol": "SGSM3",
"hgvs_c": "c.562C>G",
"hgvs_p": "p.Arg188Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626326.1",
"strand": true,
"transcript": "ENST00000956267.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2820,
"cdna_start": 767,
"cds_end": null,
"cds_length": 2274,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000956262.1",
"gene_hgnc_id": 25228,
"gene_symbol": "SGSM3",
"hgvs_c": "c.565C>G",
"hgvs_p": "p.Arg189Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626321.1",
"strand": true,
"transcript": "ENST00000956262.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 756,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2587,
"cdna_start": 771,
"cds_end": null,
"cds_length": 2271,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001350040.2",
"gene_hgnc_id": 25228,
"gene_symbol": "SGSM3",
"hgvs_c": "c.565C>G",
"hgvs_p": "p.Arg189Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336969.1",
"strand": true,
"transcript": "NM_001350040.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 756,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2824,
"cdna_start": 774,
"cds_end": null,
"cds_length": 2271,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000956261.1",
"gene_hgnc_id": 25228,
"gene_symbol": "SGSM3",
"hgvs_c": "c.565C>G",
"hgvs_p": "p.Arg189Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626320.1",
"strand": true,
"transcript": "ENST00000956261.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 753,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2801,
"cdna_start": 752,
"cds_end": null,
"cds_length": 2262,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000851453.1",
"gene_hgnc_id": 25228,
"gene_symbol": "SGSM3",
"hgvs_c": "c.565C>G",
"hgvs_p": "p.Arg189Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521512.1",
"strand": true,
"transcript": "ENST00000851453.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 749,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2791,
"cdna_start": 754,
"cds_end": null,
"cds_length": 2250,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000851451.1",
"gene_hgnc_id": 25228,
"gene_symbol": "SGSM3",
"hgvs_c": "c.565C>G",
"hgvs_p": "p.Arg189Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521510.1",
"strand": true,
"transcript": "ENST00000851451.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 749,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2766,
"cdna_start": 729,
"cds_end": null,
"cds_length": 2250,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000851461.1",
"gene_hgnc_id": 25228,
"gene_symbol": "SGSM3",
"hgvs_c": "c.565C>G",
"hgvs_p": "p.Arg189Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521520.1",
"strand": true,
"transcript": "ENST00000851461.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 749,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3010,
"cdna_start": 796,
"cds_end": null,
"cds_length": 2250,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000851462.1",
"gene_hgnc_id": 25228,
"gene_symbol": "SGSM3",
"hgvs_c": "c.565C>G",
"hgvs_p": "p.Arg189Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521521.1",
"strand": true,
"transcript": "ENST00000851462.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 749,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3062,
"cdna_start": 1033,
"cds_end": null,
"cds_length": 2250,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000956258.1",
"gene_hgnc_id": 25228,
"gene_symbol": "SGSM3",
"hgvs_c": "c.565C>G",
"hgvs_p": "p.Arg189Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626317.1",
"strand": true,
"transcript": "ENST00000956258.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 748,
"aa_ref": "R",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2980,
"cdna_start": 771,
"cds_end": null,
"cds_length": 2247,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000851448.1",
"gene_hgnc_id": 25228,
"gene_symbol": "SGSM3",
"hgvs_c": "c.562C>G",
"hgvs_p": "p.Arg188Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521507.1",
"strand": true,
"transcript": "ENST00000851448.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 748,
"aa_ref": "R",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2785,
"cdna_start": 756,
"cds_end": null,
"cds_length": 2247,
"cds_start": 562,
"consequences": [
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