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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: 14-22905653-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=22905653&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 22905653,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000359890.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM23",
"gene_hgnc_id": 20155,
"hgvs_c": "c.408G>C",
"hgvs_p": "p.Arg136Ser",
"transcript": "NM_001077351.2",
"protein_id": "NP_001070819.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 439,
"cds_start": 408,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 10007,
"mane_select": "ENST00000359890.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM23",
"gene_hgnc_id": 20155,
"hgvs_c": "c.408G>C",
"hgvs_p": "p.Arg136Ser",
"transcript": "ENST00000359890.8",
"protein_id": "ENSP00000352956.3",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 439,
"cds_start": 408,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 10007,
"mane_select": "NM_001077351.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM23",
"gene_hgnc_id": 20155,
"hgvs_c": "c.360G>C",
"hgvs_p": "p.Arg120Ser",
"transcript": "ENST00000399922.6",
"protein_id": "ENSP00000382806.2",
"transcript_support_level": 1,
"aa_start": 120,
"aa_end": null,
"aa_length": 423,
"cds_start": 360,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 2430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM23",
"gene_hgnc_id": 20155,
"hgvs_c": "n.556G>C",
"hgvs_p": null,
"transcript": "ENST00000557667.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RBM23",
"gene_hgnc_id": 20155,
"hgvs_c": "c.-270-200G>C",
"hgvs_p": null,
"transcript": "ENST00000555209.5",
"protein_id": "ENSP00000452602.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 189,
"cds_start": -4,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM23",
"gene_hgnc_id": 20155,
"hgvs_c": "c.540G>C",
"hgvs_p": "p.Arg180Ser",
"transcript": "NM_001352764.2",
"protein_id": "NP_001339693.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 483,
"cds_start": 540,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 10129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM23",
"gene_hgnc_id": 20155,
"hgvs_c": "c.408G>C",
"hgvs_p": "p.Arg136Ser",
"transcript": "NM_001352763.2",
"protein_id": "NP_001339692.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 439,
"cds_start": 408,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 10125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM23",
"gene_hgnc_id": 20155,
"hgvs_c": "c.408G>C",
"hgvs_p": "p.Arg136Ser",
"transcript": "NM_001352766.2",
"protein_id": "NP_001339695.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 439,
"cds_start": 408,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 10244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM23",
"gene_hgnc_id": 20155,
"hgvs_c": "c.360G>C",
"hgvs_p": "p.Arg120Ser",
"transcript": "NM_001352765.2",
"protein_id": "NP_001339694.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 423,
"cds_start": 360,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 10099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM23",
"gene_hgnc_id": 20155,
"hgvs_c": "c.360G>C",
"hgvs_p": "p.Arg120Ser",
"transcript": "NM_018107.5",
"protein_id": "NP_060577.3",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 423,
"cds_start": 360,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 9959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM23",
"gene_hgnc_id": 20155,
"hgvs_c": "c.492G>C",
"hgvs_p": "p.Arg164Ser",
"transcript": "XM_011536892.3",
"protein_id": "XP_011535194.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 467,
"cds_start": 492,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 10081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM23",
"gene_hgnc_id": 20155,
"hgvs_c": "c.492G>C",
"hgvs_p": "p.Arg164Ser",
"transcript": "XM_011536893.4",
"protein_id": "XP_011535195.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 467,
"cds_start": 492,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 1555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM23",
"gene_hgnc_id": 20155,
"hgvs_c": "c.414G>C",
"hgvs_p": "p.Arg138Ser",
"transcript": "XM_011536897.3",
"protein_id": "XP_011535199.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 441,
"cds_start": 414,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 10230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"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": "RBM23",
"gene_hgnc_id": 20155,
"hgvs_c": "c.540G>C",
"hgvs_p": "p.Arg180Ser",
"transcript": "XM_024449644.2",
"protein_id": "XP_024305412.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 363,
"cds_start": 540,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 3015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM23",
"gene_hgnc_id": 20155,
"hgvs_c": "n.569G>C",
"hgvs_p": null,
"transcript": "ENST00000307814.10",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM23",
"gene_hgnc_id": 20155,
"hgvs_c": "n.301G>C",
"hgvs_p": null,
"transcript": "ENST00000553738.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM23",
"gene_hgnc_id": 20155,
"hgvs_c": "n.456G>C",
"hgvs_p": null,
"transcript": "ENST00000555714.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM23",
"gene_hgnc_id": 20155,
"hgvs_c": "n.1056G>C",
"hgvs_p": null,
"transcript": "ENST00000556687.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM23",
"gene_hgnc_id": 20155,
"hgvs_c": "c.-103G>C",
"hgvs_p": null,
"transcript": "NM_001308044.2",
"protein_id": "NP_001294973.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 269,
"cds_start": -4,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM23",
"gene_hgnc_id": 20155,
"hgvs_c": "c.-103G>C",
"hgvs_p": null,
"transcript": "NM_001352762.2",
"protein_id": "NP_001339691.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 269,
"cds_start": -4,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM23",
"gene_hgnc_id": 20155,
"hgvs_c": "c.-103G>C",
"hgvs_p": null,
"transcript": "ENST00000542016.6",
"protein_id": "ENSP00000438504.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 269,
"cds_start": -4,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM23",
"gene_hgnc_id": 20155,
"hgvs_c": "c.-103G>C",
"hgvs_p": null,
"transcript": "ENST00000555722.5",
"protein_id": "ENSP00000450556.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 49,
"cds_start": -4,
"cds_end": null,
"cds_length": 152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM23",
"gene_hgnc_id": 20155,
"hgvs_c": "c.-103G>C",
"hgvs_p": null,
"transcript": "XM_011536902.2",
"protein_id": "XP_011535204.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 269,
"cds_start": -4,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9894,
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}