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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: 5-163518329-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=163518329&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 163518329,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_013283.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAT2B",
"gene_hgnc_id": 6905,
"hgvs_c": "c.971T>C",
"hgvs_p": "p.Ile324Thr",
"transcript": "NM_013283.5",
"protein_id": "NP_037415.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 334,
"cds_start": 971,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": "ENST00000321757.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013283.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAT2B",
"gene_hgnc_id": 6905,
"hgvs_c": "c.971T>C",
"hgvs_p": "p.Ile324Thr",
"transcript": "ENST00000321757.11",
"protein_id": "ENSP00000325425.6",
"transcript_support_level": 1,
"aa_start": 324,
"aa_end": null,
"aa_length": 334,
"cds_start": 971,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": "NM_013283.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321757.11"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAT2B",
"gene_hgnc_id": 6905,
"hgvs_c": "c.938T>C",
"hgvs_p": "p.Ile313Thr",
"transcript": "ENST00000280969.9",
"protein_id": "ENSP00000280969.5",
"transcript_support_level": 1,
"aa_start": 313,
"aa_end": null,
"aa_length": 323,
"cds_start": 938,
"cds_end": null,
"cds_length": 972,
"cdna_start": 1219,
"cdna_end": null,
"cdna_length": 2226,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000280969.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAT2B",
"gene_hgnc_id": 6905,
"hgvs_c": "c.*1558T>C",
"hgvs_p": null,
"transcript": "ENST00000518095.5",
"protein_id": "ENSP00000428046.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 259,
"cds_start": null,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3409,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518095.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAT2B",
"gene_hgnc_id": 6905,
"hgvs_c": "c.992T>C",
"hgvs_p": "p.Ile331Thr",
"transcript": "ENST00000694947.1",
"protein_id": "ENSP00000511611.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 341,
"cds_start": 992,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000694947.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAT2B",
"gene_hgnc_id": 6905,
"hgvs_c": "c.938T>C",
"hgvs_p": "p.Ile313Thr",
"transcript": "NM_182796.2",
"protein_id": "NP_877725.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 323,
"cds_start": 938,
"cds_end": null,
"cds_length": 972,
"cdna_start": 1269,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182796.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAT2B",
"gene_hgnc_id": 6905,
"hgvs_c": "c.857T>C",
"hgvs_p": "p.Ile286Thr",
"transcript": "ENST00000694941.1",
"protein_id": "ENSP00000511608.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 296,
"cds_start": 857,
"cds_end": null,
"cds_length": 891,
"cdna_start": 999,
"cdna_end": null,
"cdna_length": 1095,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000694941.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAT2B",
"gene_hgnc_id": 6905,
"hgvs_c": "c.776T>C",
"hgvs_p": "p.Ile259Thr",
"transcript": "ENST00000421814.7",
"protein_id": "ENSP00000397371.3",
"transcript_support_level": 5,
"aa_start": 259,
"aa_end": null,
"aa_length": 269,
"cds_start": 776,
"cds_end": null,
"cds_length": 810,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 1706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421814.7"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAT2B",
"gene_hgnc_id": 6905,
"hgvs_c": "c.509T>C",
"hgvs_p": "p.Ile170Thr",
"transcript": "ENST00000891311.1",
"protein_id": "ENSP00000561370.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 180,
"cds_start": 509,
"cds_end": null,
"cds_length": 543,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 1397,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891311.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAT2B",
"gene_hgnc_id": 6905,
"hgvs_c": "c.395T>C",
"hgvs_p": "p.Ile132Thr",
"transcript": "ENST00000694952.1",
"protein_id": "ENSP00000511614.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 142,
"cds_start": 395,
"cds_end": null,
"cds_length": 429,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 1170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000694952.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAT2B",
"gene_hgnc_id": 6905,
"hgvs_c": "c.392T>C",
"hgvs_p": "p.Ile131Thr",
"transcript": "ENST00000911813.1",
"protein_id": "ENSP00000581872.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 141,
"cds_start": 392,
"cds_end": null,
"cds_length": 426,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 1302,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911813.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAT2B",
"gene_hgnc_id": 6905,
"hgvs_c": "c.374T>C",
"hgvs_p": "p.Ile125Thr",
"transcript": "ENST00000694940.1",
"protein_id": "ENSP00000511607.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 135,
"cds_start": 374,
"cds_end": null,
"cds_length": 408,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 2018,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000694940.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAT2B",
"gene_hgnc_id": 6905,
"hgvs_c": "c.374T>C",
"hgvs_p": "p.Ile125Thr",
"transcript": "ENST00000694954.1",
"protein_id": "ENSP00000511615.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 135,
"cds_start": 374,
"cds_end": null,
"cds_length": 408,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 1939,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000694954.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAT2B",
"gene_hgnc_id": 6905,
"hgvs_c": "c.374T>C",
"hgvs_p": "p.Ile125Thr",
"transcript": "ENST00000695025.1",
"protein_id": "ENSP00000511652.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 135,
"cds_start": 374,
"cds_end": null,
"cds_length": 408,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 2060,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695025.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAT2B",
"gene_hgnc_id": 6905,
"hgvs_c": "c.374T>C",
"hgvs_p": "p.Ile125Thr",
"transcript": "ENST00000695026.1",
"protein_id": "ENSP00000511653.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 135,
"cds_start": 374,
"cds_end": null,
"cds_length": 408,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 2091,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695026.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAT2B",
"gene_hgnc_id": 6905,
"hgvs_c": "c.374T>C",
"hgvs_p": "p.Ile125Thr",
"transcript": "ENST00000695027.1",
"protein_id": "ENSP00000511654.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 135,
"cds_start": 374,
"cds_end": null,
"cds_length": 408,
"cdna_start": 1019,
"cdna_end": null,
"cdna_length": 2023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695027.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAT2B",
"gene_hgnc_id": 6905,
"hgvs_c": "c.374T>C",
"hgvs_p": "p.Ile125Thr",
"transcript": "ENST00000695028.1",
"protein_id": "ENSP00000511655.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 135,
"cds_start": 374,
"cds_end": null,
"cds_length": 408,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 2171,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695028.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAT2B",
"gene_hgnc_id": 6905,
"hgvs_c": "c.374T>C",
"hgvs_p": "p.Ile125Thr",
"transcript": "ENST00000695029.1",
"protein_id": "ENSP00000511656.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 135,
"cds_start": 374,
"cds_end": null,
"cds_length": 408,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 2050,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695029.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAT2B",
"gene_hgnc_id": 6905,
"hgvs_c": "c.374T>C",
"hgvs_p": "p.Ile125Thr",
"transcript": "ENST00000695034.1",
"protein_id": "ENSP00000511961.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 135,
"cds_start": 374,
"cds_end": null,
"cds_length": 408,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 2120,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695034.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAT2B",
"gene_hgnc_id": 6905,
"hgvs_c": "c.362T>C",
"hgvs_p": "p.Ile121Thr",
"transcript": "ENST00000694938.1",
"protein_id": "ENSP00000511605.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 131,
"cds_start": 362,
"cds_end": null,
"cds_length": 396,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 1203,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000694938.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAT2B",
"gene_hgnc_id": 6905,
"hgvs_c": "c.*1558T>C",
"hgvs_p": null,
"transcript": "ENST00000694939.1",
"protein_id": "ENSP00000511606.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": null,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3124,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000694939.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAT2B",
"gene_hgnc_id": 6905,
"hgvs_c": "n.*502T>C",
"hgvs_p": null,
"transcript": "ENST00000520449.2",
"protein_id": "ENSP00000431071.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
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{
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}