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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: 3-39408644-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=39408644&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RPSA",
"hgnc_id": 6502,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Leu58Phe",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001304288.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3",
"PP5"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "SNORA6",
"hgnc_id": 32591,
"hgvs_c": "n.*105C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "NR_002325.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3,PP5",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9821,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.07,
"chr": "3",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Familial isolated congenital asplenia",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8065391778945923,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 295,
"aa_ref": "L",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1140,
"cdna_start": 250,
"cds_end": null,
"cds_length": 888,
"cds_start": 172,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_002295.6",
"gene_hgnc_id": 6502,
"gene_symbol": "RPSA",
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Leu58Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000301821.11",
"protein_coding": true,
"protein_id": "NP_002286.2",
"strand": true,
"transcript": "NM_002295.6",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 295,
"aa_ref": "L",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1140,
"cdna_start": 250,
"cds_end": null,
"cds_length": 888,
"cds_start": 172,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000301821.11",
"gene_hgnc_id": 6502,
"gene_symbol": "RPSA",
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Leu58Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002295.6",
"protein_coding": true,
"protein_id": "ENSP00000346067.4",
"strand": true,
"transcript": "ENST00000301821.11",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 300,
"aa_ref": "L",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1032,
"cdna_start": 235,
"cds_end": null,
"cds_length": 903,
"cds_start": 172,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000443003.2",
"gene_hgnc_id": 6502,
"gene_symbol": "RPSA",
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Leu58Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389351.1",
"strand": true,
"transcript": "ENST00000443003.2",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 300,
"aa_ref": "L",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1155,
"cdna_start": 250,
"cds_end": null,
"cds_length": 903,
"cds_start": 172,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001304288.2",
"gene_hgnc_id": 6502,
"gene_symbol": "RPSA",
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Leu58Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291217.1",
"strand": true,
"transcript": "NM_001304288.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 300,
"aa_ref": "L",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1069,
"cdna_start": 268,
"cds_end": null,
"cds_length": 903,
"cds_start": 172,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922536.1",
"gene_hgnc_id": 6502,
"gene_symbol": "RPSA",
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Leu58Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592595.1",
"strand": true,
"transcript": "ENST00000922536.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 300,
"aa_ref": "L",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1134,
"cdna_start": 333,
"cds_end": null,
"cds_length": 903,
"cds_start": 172,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922539.1",
"gene_hgnc_id": 6502,
"gene_symbol": "RPSA",
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Leu58Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592598.1",
"strand": true,
"transcript": "ENST00000922539.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 295,
"aa_ref": "L",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1041,
"cdna_start": 255,
"cds_end": null,
"cds_length": 888,
"cds_start": 172,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000458478.6",
"gene_hgnc_id": 6502,
"gene_symbol": "RPSA",
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Leu58Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410848.2",
"strand": true,
"transcript": "ENST00000458478.6",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 295,
"aa_ref": "L",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1060,
"cdna_start": 274,
"cds_end": null,
"cds_length": 888,
"cds_start": 172,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000697729.1",
"gene_hgnc_id": 6502,
"gene_symbol": "RPSA",
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Leu58Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513423.1",
"strand": true,
"transcript": "ENST00000697729.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 295,
"aa_ref": "L",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1158,
"cdna_start": 372,
"cds_end": null,
"cds_length": 888,
"cds_start": 172,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000697730.1",
"gene_hgnc_id": 6502,
"gene_symbol": "RPSA",
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Leu58Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513424.1",
"strand": true,
"transcript": "ENST00000697730.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 295,
"aa_ref": "L",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1079,
"cdna_start": 293,
"cds_end": null,
"cds_length": 888,
"cds_start": 172,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000697731.1",
"gene_hgnc_id": 6502,
"gene_symbol": "RPSA",
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Leu58Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513425.1",
"strand": true,
"transcript": "ENST00000697731.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 295,
"aa_ref": "L",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1016,
"cdna_start": 230,
"cds_end": null,
"cds_length": 888,
"cds_start": 172,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000869093.1",
"gene_hgnc_id": 6502,
"gene_symbol": "RPSA",
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Leu58Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539152.1",
"strand": true,
"transcript": "ENST00000869093.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 295,
"aa_ref": "L",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1094,
"cdna_start": 308,
"cds_end": null,
"cds_length": 888,
"cds_start": 172,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000869094.1",
"gene_hgnc_id": 6502,
"gene_symbol": "RPSA",
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Leu58Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539153.1",
"strand": true,
"transcript": "ENST00000869094.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 295,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1064,
"cdna_start": 275,
"cds_end": null,
"cds_length": 888,
"cds_start": 172,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922533.1",
"gene_hgnc_id": 6502,
"gene_symbol": "RPSA",
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Leu58Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592592.1",
"strand": true,
"transcript": "ENST00000922533.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 295,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1166,
"cdna_start": 380,
"cds_end": null,
"cds_length": 888,
"cds_start": 172,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922542.1",
"gene_hgnc_id": 6502,
"gene_symbol": "RPSA",
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Leu58Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592601.1",
"strand": true,
"transcript": "ENST00000922542.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 295,
"aa_ref": "L",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1084,
"cdna_start": 298,
"cds_end": null,
"cds_length": 888,
"cds_start": 172,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922543.1",
"gene_hgnc_id": 6502,
"gene_symbol": "RPSA",
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Leu58Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592602.1",
"strand": true,
"transcript": "ENST00000922543.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 295,
"aa_ref": "L",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1329,
"cdna_start": 543,
"cds_end": null,
"cds_length": 888,
"cds_start": 172,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922544.1",
"gene_hgnc_id": 6502,
"gene_symbol": "RPSA",
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Leu58Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592603.1",
"strand": true,
"transcript": "ENST00000922544.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 293,
"aa_ref": "L",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1120,
"cdna_start": 246,
"cds_end": null,
"cds_length": 882,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000956236.1",
"gene_hgnc_id": 6502,
"gene_symbol": "RPSA",
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Leu56Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626295.1",
"strand": true,
"transcript": "ENST00000956236.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 290,
"aa_ref": "L",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1139,
"cdna_start": 261,
"cds_end": null,
"cds_length": 873,
"cds_start": 172,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922532.1",
"gene_hgnc_id": 6502,
"gene_symbol": "RPSA",
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Leu58Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592591.1",
"strand": true,
"transcript": "ENST00000922532.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 284,
"aa_ref": "L",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 922,
"cdna_start": 173,
"cds_end": null,
"cds_length": 855,
"cds_start": 172,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000869095.1",
"gene_hgnc_id": 6502,
"gene_symbol": "RPSA",
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Leu58Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539154.1",
"strand": true,
"transcript": "ENST00000869095.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 274,
"aa_ref": "L",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1248,
"cdna_start": 250,
"cds_end": null,
"cds_length": 825,
"cds_start": 172,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000697728.1",
"gene_hgnc_id": 6502,
"gene_symbol": "RPSA",
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Leu58Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513422.1",
"strand": true,
"transcript": "ENST00000697728.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 268,
"aa_ref": "L",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 957,
"cdna_start": 252,
"cds_end": null,
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