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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: 17-82946930-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=82946930&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "QTGAL",
"hgnc_id": 21727,
"hgvs_c": "c.1017G>A",
"hgvs_p": "p.Glu339Glu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_001320742.2",
"verdict": "Likely_benign"
},
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "B3GNTL1",
"hgnc_id": 21727,
"hgvs_c": "c.1014G>A",
"hgvs_p": "p.Glu338Glu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "ENST00000320865.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4699999988079071,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 346,
"aa_ref": "E",
"aa_start": 338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2985,
"cdna_start": 1033,
"cds_end": null,
"cds_length": 1041,
"cds_start": 1014,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001009905.3",
"gene_hgnc_id": 21727,
"gene_symbol": "QTGAL",
"hgvs_c": "c.1014G>A",
"hgvs_p": "p.Glu338Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000320865.4",
"protein_coding": true,
"protein_id": "NP_001009905.2",
"strand": false,
"transcript": "NM_001009905.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 346,
"aa_ref": "E",
"aa_start": 338,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2985,
"cdna_start": 1033,
"cds_end": null,
"cds_length": 1041,
"cds_start": 1014,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000320865.4",
"gene_hgnc_id": 21727,
"gene_symbol": "B3GNTL1",
"hgvs_c": "c.1014G>A",
"hgvs_p": "p.Glu338Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001009905.3",
"protein_coding": true,
"protein_id": "ENSP00000319979.4",
"strand": false,
"transcript": "ENST00000320865.4",
"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": 3324,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000571301.1",
"gene_hgnc_id": 21727,
"gene_symbol": "B3GNTL1",
"hgvs_c": "n.3019G>A",
"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": "ENST00000571301.1",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 347,
"aa_ref": "E",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3096,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 1044,
"cds_start": 1017,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001320742.2",
"gene_hgnc_id": 21727,
"gene_symbol": "QTGAL",
"hgvs_c": "c.1017G>A",
"hgvs_p": "p.Glu339Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307671.1",
"strand": false,
"transcript": "NM_001320742.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 346,
"aa_ref": "E",
"aa_start": 338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1423,
"cdna_start": 1092,
"cds_end": null,
"cds_length": 1041,
"cds_start": 1014,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000905888.1",
"gene_hgnc_id": 21727,
"gene_symbol": "B3GNTL1",
"hgvs_c": "c.1014G>A",
"hgvs_p": "p.Glu338Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575947.1",
"strand": false,
"transcript": "ENST00000905888.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 346,
"aa_ref": "E",
"aa_start": 338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1534,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 1041,
"cds_start": 1014,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000905890.1",
"gene_hgnc_id": 21727,
"gene_symbol": "B3GNTL1",
"hgvs_c": "c.1014G>A",
"hgvs_p": "p.Glu338Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575949.1",
"strand": false,
"transcript": "ENST00000905890.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 346,
"aa_ref": "E",
"aa_start": 338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1186,
"cdna_start": 1029,
"cds_end": null,
"cds_length": 1041,
"cds_start": 1014,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000905891.1",
"gene_hgnc_id": 21727,
"gene_symbol": "B3GNTL1",
"hgvs_c": "c.1014G>A",
"hgvs_p": "p.Glu338Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575950.1",
"strand": false,
"transcript": "ENST00000905891.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 346,
"aa_ref": "E",
"aa_start": 338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1552,
"cdna_start": 1084,
"cds_end": null,
"cds_length": 1041,
"cds_start": 1014,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000905892.1",
"gene_hgnc_id": 21727,
"gene_symbol": "B3GNTL1",
"hgvs_c": "c.1014G>A",
"hgvs_p": "p.Glu338Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575951.1",
"strand": false,
"transcript": "ENST00000905892.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 329,
"aa_ref": "E",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1336,
"cdna_start": 1026,
"cds_end": null,
"cds_length": 990,
"cds_start": 963,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000905889.1",
"gene_hgnc_id": 21727,
"gene_symbol": "B3GNTL1",
"hgvs_c": "c.963G>A",
"hgvs_p": "p.Glu321Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575948.1",
"strand": false,
"transcript": "ENST00000905889.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 314,
"aa_ref": "E",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1265,
"cdna_start": 953,
"cds_end": null,
"cds_length": 945,
"cds_start": 918,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000915988.1",
"gene_hgnc_id": 21727,
"gene_symbol": "B3GNTL1",
"hgvs_c": "c.918G>A",
"hgvs_p": "p.Glu306Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586047.1",
"strand": false,
"transcript": "ENST00000915988.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 250,
"aa_ref": "E",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1787,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 753,
"cds_start": 726,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000576599.5",
"gene_hgnc_id": 21727,
"gene_symbol": "B3GNTL1",
"hgvs_c": "c.726G>A",
"hgvs_p": "p.Glu242Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461127.1",
"strand": false,
"transcript": "ENST00000576599.5",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 183,
"aa_ref": "E",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3613,
"cdna_start": 1668,
"cds_end": null,
"cds_length": 552,
"cds_start": 525,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001320743.2",
"gene_hgnc_id": 21727,
"gene_symbol": "QTGAL",
"hgvs_c": "c.525G>A",
"hgvs_p": "p.Glu175Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307672.1",
"strand": false,
"transcript": "NM_001320743.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 347,
"aa_ref": "E",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4411,
"cdna_start": 2459,
"cds_end": null,
"cds_length": 1044,
"cds_start": 1017,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047435393.1",
"gene_hgnc_id": 21727,
"gene_symbol": "QTGAL",
"hgvs_c": "c.1017G>A",
"hgvs_p": "p.Glu339Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291349.1",
"strand": false,
"transcript": "XM_047435393.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 314,
"aa_ref": "E",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2889,
"cdna_start": 937,
"cds_end": null,
"cds_length": 945,
"cds_start": 918,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047435395.1",
"gene_hgnc_id": 21727,
"gene_symbol": "QTGAL",
"hgvs_c": "c.918G>A",
"hgvs_p": "p.Glu306Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291351.1",
"strand": false,
"transcript": "XM_047435395.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 292,
"aa_ref": "E",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2823,
"cdna_start": 871,
"cds_end": null,
"cds_length": 879,
"cds_start": 852,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047435396.1",
"gene_hgnc_id": 21727,
"gene_symbol": "QTGAL",
"hgvs_c": "c.852G>A",
"hgvs_p": "p.Glu284Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291352.1",
"strand": false,
"transcript": "XM_047435396.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 250,
"aa_ref": "E",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2808,
"cdna_start": 856,
"cds_end": null,
"cds_length": 753,
"cds_start": 726,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047435397.1",
"gene_hgnc_id": 21727,
"gene_symbol": "QTGAL",
"hgvs_c": "c.726G>A",
"hgvs_p": "p.Glu242Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291353.1",
"strand": false,
"transcript": "XM_047435397.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 244,
"aa_ref": "E",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2995,
"cdna_start": 1043,
"cds_end": null,
"cds_length": 735,
"cds_start": 708,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047435398.1",
"gene_hgnc_id": 21727,
"gene_symbol": "QTGAL",
"hgvs_c": "c.708G>A",
"hgvs_p": "p.Glu236Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291354.1",
"strand": false,
"transcript": "XM_047435398.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 390,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000570947.5",
"gene_hgnc_id": 21727,
"gene_symbol": "B3GNTL1",
"hgvs_c": "n.80G>A",
"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": "ENST00000570947.5",
"transcript_support_level": 3
},
{
"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": 774,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000571394.1",
"gene_hgnc_id": 21727,
"gene_symbol": "B3GNTL1",
"hgvs_c": "n.738G>A",
"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": "ENST00000571394.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2446,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000572977.5",
"gene_hgnc_id": 21727,
"gene_symbol": "B3GNTL1",
"hgvs_c": "n.525G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000459327.1",
"strand": false,
"transcript": "ENST00000572977.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
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