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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: X-16852858-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=16852858&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 16852858,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001198719.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.776A>G",
"hgvs_p": "p.Asn259Ser",
"transcript": "NM_002893.4",
"protein_id": "NP_002884.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 425,
"cds_start": 776,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 2281,
"mane_select": "ENST00000380087.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002893.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.776A>G",
"hgvs_p": "p.Asn259Ser",
"transcript": "ENST00000380087.7",
"protein_id": "ENSP00000369427.3",
"transcript_support_level": 1,
"aa_start": 259,
"aa_end": null,
"aa_length": 425,
"cds_start": 776,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 2281,
"mane_select": "NM_002893.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380087.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "n.1229A>G",
"hgvs_p": null,
"transcript": "ENST00000486166.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1535,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000486166.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.908A>G",
"hgvs_p": "p.Asn303Ser",
"transcript": "NM_001198719.2",
"protein_id": "NP_001185648.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 469,
"cds_start": 908,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1130,
"cdna_end": null,
"cdna_length": 2326,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198719.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.908A>G",
"hgvs_p": "p.Asn303Ser",
"transcript": "ENST00000380084.8",
"protein_id": "ENSP00000369424.4",
"transcript_support_level": 2,
"aa_start": 303,
"aa_end": null,
"aa_length": 469,
"cds_start": 908,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1153,
"cdna_end": null,
"cdna_length": 2036,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380084.8"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.776A>G",
"hgvs_p": "p.Asn259Ser",
"transcript": "ENST00000967933.1",
"protein_id": "ENSP00000637992.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 456,
"cds_start": 776,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 1090,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967933.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.773A>G",
"hgvs_p": "p.Asn258Ser",
"transcript": "ENST00000967934.1",
"protein_id": "ENSP00000637993.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 443,
"cds_start": 773,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1058,
"cdna_end": null,
"cdna_length": 1979,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967934.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.749A>G",
"hgvs_p": "p.Asn250Ser",
"transcript": "ENST00000919338.1",
"protein_id": "ENSP00000589397.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 435,
"cds_start": 749,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 1806,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919338.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.776A>G",
"hgvs_p": "p.Asn259Ser",
"transcript": "ENST00000863748.1",
"protein_id": "ENSP00000533807.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 433,
"cds_start": 776,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 1996,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863748.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.776A>G",
"hgvs_p": "p.Asn259Ser",
"transcript": "ENST00000919335.1",
"protein_id": "ENSP00000589394.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 433,
"cds_start": 776,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 1806,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919335.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.776A>G",
"hgvs_p": "p.Asn259Ser",
"transcript": "ENST00000919337.1",
"protein_id": "ENSP00000589396.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 433,
"cds_start": 776,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 1959,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919337.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.785A>G",
"hgvs_p": "p.Asn262Ser",
"transcript": "ENST00000967939.1",
"protein_id": "ENSP00000637998.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 428,
"cds_start": 785,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 1867,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967939.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.776A>G",
"hgvs_p": "p.Asn259Ser",
"transcript": "ENST00000863745.1",
"protein_id": "ENSP00000533804.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 425,
"cds_start": 776,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 1861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863745.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.776A>G",
"hgvs_p": "p.Asn259Ser",
"transcript": "ENST00000919334.1",
"protein_id": "ENSP00000589393.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 425,
"cds_start": 776,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 1755,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919334.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.773A>G",
"hgvs_p": "p.Asn258Ser",
"transcript": "ENST00000863755.1",
"protein_id": "ENSP00000533814.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 424,
"cds_start": 773,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 1861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863755.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.764A>G",
"hgvs_p": "p.Asn255Ser",
"transcript": "ENST00000863753.1",
"protein_id": "ENSP00000533812.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 421,
"cds_start": 764,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 1880,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863753.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.749A>G",
"hgvs_p": "p.Asn250Ser",
"transcript": "ENST00000404022.5",
"protein_id": "ENSP00000386068.1",
"transcript_support_level": 5,
"aa_start": 250,
"aa_end": null,
"aa_length": 416,
"cds_start": 749,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 1904,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404022.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.776A>G",
"hgvs_p": "p.Asn259Ser",
"transcript": "ENST00000863750.1",
"protein_id": "ENSP00000533809.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 416,
"cds_start": 776,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1055,
"cdna_end": null,
"cdna_length": 1915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863750.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.776A>G",
"hgvs_p": "p.Asn259Ser",
"transcript": "ENST00000863751.1",
"protein_id": "ENSP00000533810.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 399,
"cds_start": 776,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 1833,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863751.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.749A>G",
"hgvs_p": "p.Asn250Ser",
"transcript": "ENST00000967938.1",
"protein_id": "ENSP00000637997.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 390,
"cds_start": 749,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 1772,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967938.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.776A>G",
"hgvs_p": "p.Asn259Ser",
"transcript": "ENST00000967937.1",
"protein_id": "ENSP00000637996.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 388,
"cds_start": 776,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 1772,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967937.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.602A>G",
"hgvs_p": "p.Asn201Ser",
"transcript": "ENST00000863754.1",
"protein_id": "ENSP00000533813.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 367,
"cds_start": 602,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 822,
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
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"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}