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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: 5-163518263-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=163518263&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MAT2B",
"hgnc_id": 6905,
"hgvs_c": "c.905C>G",
"hgvs_p": "p.Thr302Ser",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_013283.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0876,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.69,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.06766858696937561,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 334,
"aa_ref": "T",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2064,
"cdna_start": 973,
"cds_end": null,
"cds_length": 1005,
"cds_start": 905,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_013283.5",
"gene_hgnc_id": 6905,
"gene_symbol": "MAT2B",
"hgvs_c": "c.905C>G",
"hgvs_p": "p.Thr302Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000321757.11",
"protein_coding": true,
"protein_id": "NP_037415.1",
"strand": true,
"transcript": "NM_013283.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 334,
"aa_ref": "T",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2064,
"cdna_start": 973,
"cds_end": null,
"cds_length": 1005,
"cds_start": 905,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000321757.11",
"gene_hgnc_id": 6905,
"gene_symbol": "MAT2B",
"hgvs_c": "c.905C>G",
"hgvs_p": "p.Thr302Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_013283.5",
"protein_coding": true,
"protein_id": "ENSP00000325425.6",
"strand": true,
"transcript": "ENST00000321757.11",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 323,
"aa_ref": "T",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2226,
"cdna_start": 1153,
"cds_end": null,
"cds_length": 972,
"cds_start": 872,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000280969.9",
"gene_hgnc_id": 6905,
"gene_symbol": "MAT2B",
"hgvs_c": "c.872C>G",
"hgvs_p": "p.Thr291Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000280969.5",
"strand": true,
"transcript": "ENST00000280969.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 259,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3409,
"cdna_start": null,
"cds_end": null,
"cds_length": 780,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000518095.5",
"gene_hgnc_id": 6905,
"gene_symbol": "MAT2B",
"hgvs_c": "c.*1492C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428046.1",
"strand": true,
"transcript": "ENST00000518095.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 341,
"aa_ref": "T",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2080,
"cdna_start": 1034,
"cds_end": null,
"cds_length": 1026,
"cds_start": 926,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000694947.1",
"gene_hgnc_id": 6905,
"gene_symbol": "MAT2B",
"hgvs_c": "c.926C>G",
"hgvs_p": "p.Thr309Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511611.1",
"strand": true,
"transcript": "ENST00000694947.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 323,
"aa_ref": "T",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2293,
"cdna_start": 1203,
"cds_end": null,
"cds_length": 972,
"cds_start": 872,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_182796.2",
"gene_hgnc_id": 6905,
"gene_symbol": "MAT2B",
"hgvs_c": "c.872C>G",
"hgvs_p": "p.Thr291Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_877725.1",
"strand": true,
"transcript": "NM_182796.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 296,
"aa_ref": "T",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1095,
"cdna_start": 933,
"cds_end": null,
"cds_length": 891,
"cds_start": 791,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000694941.1",
"gene_hgnc_id": 6905,
"gene_symbol": "MAT2B",
"hgvs_c": "c.791C>G",
"hgvs_p": "p.Thr264Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511608.1",
"strand": true,
"transcript": "ENST00000694941.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 269,
"aa_ref": "T",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1706,
"cdna_start": 813,
"cds_end": null,
"cds_length": 810,
"cds_start": 710,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000421814.7",
"gene_hgnc_id": 6905,
"gene_symbol": "MAT2B",
"hgvs_c": "c.710C>G",
"hgvs_p": "p.Thr237Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397371.3",
"strand": true,
"transcript": "ENST00000421814.7",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 180,
"aa_ref": "T",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1397,
"cdna_start": 511,
"cds_end": null,
"cds_length": 543,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000891311.1",
"gene_hgnc_id": 6905,
"gene_symbol": "MAT2B",
"hgvs_c": "c.443C>G",
"hgvs_p": "p.Thr148Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561370.1",
"strand": true,
"transcript": "ENST00000891311.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 142,
"aa_ref": "T",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1170,
"cdna_start": 417,
"cds_end": null,
"cds_length": 429,
"cds_start": 329,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000694952.1",
"gene_hgnc_id": 6905,
"gene_symbol": "MAT2B",
"hgvs_c": "c.329C>G",
"hgvs_p": "p.Thr110Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511614.1",
"strand": true,
"transcript": "ENST00000694952.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 141,
"aa_ref": "T",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1302,
"cdna_start": 417,
"cds_end": null,
"cds_length": 426,
"cds_start": 326,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000911813.1",
"gene_hgnc_id": 6905,
"gene_symbol": "MAT2B",
"hgvs_c": "c.326C>G",
"hgvs_p": "p.Thr109Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581872.1",
"strand": true,
"transcript": "ENST00000911813.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 135,
"aa_ref": "T",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2018,
"cdna_start": 948,
"cds_end": null,
"cds_length": 408,
"cds_start": 308,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000694940.1",
"gene_hgnc_id": 6905,
"gene_symbol": "MAT2B",
"hgvs_c": "c.308C>G",
"hgvs_p": "p.Thr103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511607.1",
"strand": true,
"transcript": "ENST00000694940.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 135,
"aa_ref": "T",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1939,
"cdna_start": 869,
"cds_end": null,
"cds_length": 408,
"cds_start": 308,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000694954.1",
"gene_hgnc_id": 6905,
"gene_symbol": "MAT2B",
"hgvs_c": "c.308C>G",
"hgvs_p": "p.Thr103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511615.1",
"strand": true,
"transcript": "ENST00000694954.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 135,
"aa_ref": "T",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2060,
"cdna_start": 990,
"cds_end": null,
"cds_length": 408,
"cds_start": 308,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000695025.1",
"gene_hgnc_id": 6905,
"gene_symbol": "MAT2B",
"hgvs_c": "c.308C>G",
"hgvs_p": "p.Thr103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511652.1",
"strand": true,
"transcript": "ENST00000695025.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 135,
"aa_ref": "T",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2091,
"cdna_start": 1021,
"cds_end": null,
"cds_length": 408,
"cds_start": 308,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000695026.1",
"gene_hgnc_id": 6905,
"gene_symbol": "MAT2B",
"hgvs_c": "c.308C>G",
"hgvs_p": "p.Thr103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511653.1",
"strand": true,
"transcript": "ENST00000695026.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 135,
"aa_ref": "T",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2023,
"cdna_start": 953,
"cds_end": null,
"cds_length": 408,
"cds_start": 308,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000695027.1",
"gene_hgnc_id": 6905,
"gene_symbol": "MAT2B",
"hgvs_c": "c.308C>G",
"hgvs_p": "p.Thr103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511654.1",
"strand": true,
"transcript": "ENST00000695027.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 135,
"aa_ref": "T",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2171,
"cdna_start": 876,
"cds_end": null,
"cds_length": 408,
"cds_start": 308,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000695028.1",
"gene_hgnc_id": 6905,
"gene_symbol": "MAT2B",
"hgvs_c": "c.308C>G",
"hgvs_p": "p.Thr103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511655.1",
"strand": true,
"transcript": "ENST00000695028.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 135,
"aa_ref": "T",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2050,
"cdna_start": 980,
"cds_end": null,
"cds_length": 408,
"cds_start": 308,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000695029.1",
"gene_hgnc_id": 6905,
"gene_symbol": "MAT2B",
"hgvs_c": "c.308C>G",
"hgvs_p": "p.Thr103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511656.1",
"strand": true,
"transcript": "ENST00000695029.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 135,
"aa_ref": "T",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2120,
"cdna_start": 1074,
"cds_end": null,
"cds_length": 408,
"cds_start": 308,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000695034.1",
"gene_hgnc_id": 6905,
"gene_symbol": "MAT2B",
"hgvs_c": "c.308C>G",
"hgvs_p": "p.Thr103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511961.1",
"strand": true,
"transcript": "ENST00000695034.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 131,
"aa_ref": "T",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1203,
"cdna_start": 458,
"cds_end": null,
"cds_length": 396,
"cds_start": 296,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000694938.1",
"gene_hgnc_id": 6905,
"gene_symbol": "MAT2B",
"hgvs_c": "c.296C>G",
"hgvs_p": "p.Thr99Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511605.1",
"strand": true,
"transcript": "ENST00000694938.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 248,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3124,
"cdna_start": null,
"cds_end": null,
"cds_length": 747,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000694939.1",
"gene_hgnc_id": 6905,
"gene_symbol": "MAT2B",
"hgvs_c": "c.*1492C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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