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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: 17-2375657-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=2375657&ref=C&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": "SGSM2",
"hgnc_id": 29026,
"hgvs_c": "c.2266C>G",
"hgvs_p": "p.Arg756Gly",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_014853.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "SGSM2-AS1",
"hgnc_id": 56091,
"hgvs_c": "n.437G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000574290.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.3969,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.01,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7188848257064819,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1051,
"aa_ref": "R",
"aa_start": 756,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4878,
"cdna_start": 2454,
"cds_end": null,
"cds_length": 3156,
"cds_start": 2266,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_014853.3",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.2266C>G",
"hgvs_p": "p.Arg756Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000268989.8",
"protein_coding": true,
"protein_id": "NP_055668.2",
"strand": true,
"transcript": "NM_014853.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1051,
"aa_ref": "R",
"aa_start": 756,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4878,
"cdna_start": 2454,
"cds_end": null,
"cds_length": 3156,
"cds_start": 2266,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000268989.8",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.2266C>G",
"hgvs_p": "p.Arg756Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014853.3",
"protein_coding": true,
"protein_id": "ENSP00000268989.3",
"strand": true,
"transcript": "ENST00000268989.8",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "R",
"aa_start": 711,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4734,
"cdna_start": 2306,
"cds_end": null,
"cds_length": 3021,
"cds_start": 2131,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000426855.6",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.2131C>G",
"hgvs_p": "p.Arg711Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415107.2",
"strand": true,
"transcript": "ENST00000426855.6",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1052,
"aa_ref": "R",
"aa_start": 757,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4885,
"cdna_start": 2457,
"cds_end": null,
"cds_length": 3159,
"cds_start": 2269,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000968832.1",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.2269C>G",
"hgvs_p": "p.Arg757Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638891.1",
"strand": true,
"transcript": "ENST00000968832.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "R",
"aa_start": 748,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4853,
"cdna_start": 2429,
"cds_end": null,
"cds_length": 3132,
"cds_start": 2242,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000968833.1",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.2242C>G",
"hgvs_p": "p.Arg748Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638892.1",
"strand": true,
"transcript": "ENST00000968833.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1028,
"aa_ref": "R",
"aa_start": 733,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4817,
"cdna_start": 2389,
"cds_end": null,
"cds_length": 3087,
"cds_start": 2197,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000930414.1",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.2197C>G",
"hgvs_p": "p.Arg733Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600473.1",
"strand": true,
"transcript": "ENST00000930414.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "R",
"aa_start": 711,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4743,
"cdna_start": 2319,
"cds_end": null,
"cds_length": 3021,
"cds_start": 2131,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001098509.2",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.2131C>G",
"hgvs_p": "p.Arg711Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001091979.1",
"strand": true,
"transcript": "NM_001098509.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 987,
"aa_ref": "R",
"aa_start": 711,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3910,
"cdna_start": 2319,
"cds_end": null,
"cds_length": 2964,
"cds_start": 2131,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001346700.2",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.2131C>G",
"hgvs_p": "p.Arg711Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333629.1",
"strand": true,
"transcript": "NM_001346700.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 987,
"aa_ref": "R",
"aa_start": 711,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3410,
"cdna_start": 2198,
"cds_end": null,
"cds_length": 2964,
"cds_start": 2131,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000574563.5",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.2131C>G",
"hgvs_p": "p.Arg711Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000459126.1",
"strand": true,
"transcript": "ENST00000574563.5",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 902,
"aa_ref": "R",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4440,
"cdna_start": 2016,
"cds_end": null,
"cds_length": 2709,
"cds_start": 1819,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000930413.1",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.1819C>G",
"hgvs_p": "p.Arg607Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600472.1",
"strand": true,
"transcript": "ENST00000930413.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "R",
"aa_start": 802,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4265,
"cdna_start": 2592,
"cds_end": null,
"cds_length": 3312,
"cds_start": 2404,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_011524101.4",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.2404C>G",
"hgvs_p": "p.Arg802Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522403.1",
"strand": true,
"transcript": "XM_011524101.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1097,
"aa_ref": "R",
"aa_start": 802,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5016,
"cdna_start": 2592,
"cds_end": null,
"cds_length": 3294,
"cds_start": 2404,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_011524102.4",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.2404C>G",
"hgvs_p": "p.Arg802Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522404.1",
"strand": true,
"transcript": "XM_011524102.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1092,
"aa_ref": "R",
"aa_start": 802,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4245,
"cdna_start": 2592,
"cds_end": null,
"cds_length": 3279,
"cds_start": 2404,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_011524103.4",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.2404C>G",
"hgvs_p": "p.Arg802Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522405.1",
"strand": true,
"transcript": "XM_011524103.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1087,
"aa_ref": "R",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5705,
"cdna_start": 4032,
"cds_end": null,
"cds_length": 3264,
"cds_start": 2356,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_011524104.3",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.2356C>G",
"hgvs_p": "p.Arg786Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522406.1",
"strand": true,
"transcript": "XM_011524104.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "R",
"aa_start": 757,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4130,
"cdna_start": 2457,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2269,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_011524105.4",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.2269C>G",
"hgvs_p": "p.Arg757Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522407.1",
"strand": true,
"transcript": "XM_011524105.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1057,
"aa_ref": "R",
"aa_start": 756,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4127,
"cdna_start": 2454,
"cds_end": null,
"cds_length": 3174,
"cds_start": 2266,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_011524106.2",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.2266C>G",
"hgvs_p": "p.Arg756Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522408.1",
"strand": true,
"transcript": "XM_011524106.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1052,
"aa_ref": "R",
"aa_start": 757,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4881,
"cdna_start": 2457,
"cds_end": null,
"cds_length": 3159,
"cds_start": 2269,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_017025474.3",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.2269C>G",
"hgvs_p": "p.Arg757Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016880963.1",
"strand": true,
"transcript": "XM_017025474.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1047,
"aa_ref": "R",
"aa_start": 757,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4110,
"cdna_start": 2457,
"cds_end": null,
"cds_length": 3144,
"cds_start": 2269,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_017025475.3",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.2269C>G",
"hgvs_p": "p.Arg757Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016880964.1",
"strand": true,
"transcript": "XM_017025475.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "R",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4082,
"cdna_start": 2409,
"cds_end": null,
"cds_length": 3129,
"cds_start": 2221,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_011524107.4",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.2221C>G",
"hgvs_p": "p.Arg741Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522409.1",
"strand": true,
"transcript": "XM_011524107.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1036,
"aa_ref": "R",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4833,
"cdna_start": 2409,
"cds_end": null,
"cds_length": 3111,
"cds_start": 2221,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047437209.1",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.2221C>G",
"hgvs_p": "p.Arg741Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293165.1",
"strand": true,
"transcript": "XM_047437209.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1012,
"aa_ref": "R",
"aa_start": 711,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3992,
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