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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: 18-23530033-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=23530033&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 23530033,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_013326.5",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1500C>T",
"hgvs_p": "p.Tyr500Tyr",
"transcript": "NM_013326.5",
"protein_id": "NP_037458.3",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 657,
"cds_start": 1500,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 1608,
"cdna_end": null,
"cdna_length": 2200,
"mane_select": "ENST00000269221.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1500C>T",
"hgvs_p": "p.Tyr500Tyr",
"transcript": "ENST00000269221.8",
"protein_id": "ENSP00000269221.2",
"transcript_support_level": 1,
"aa_start": 500,
"aa_end": null,
"aa_length": 657,
"cds_start": 1500,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 1608,
"cdna_end": null,
"cdna_length": 2200,
"mane_select": "NM_013326.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1356C>T",
"hgvs_p": "p.Tyr452Tyr",
"transcript": "ENST00000590868.5",
"protein_id": "ENSP00000467007.1",
"transcript_support_level": 2,
"aa_start": 452,
"aa_end": null,
"aa_length": 609,
"cds_start": 1356,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1456,
"cdna_end": null,
"cdna_length": 2002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1500C>T",
"hgvs_p": "p.Tyr500Tyr",
"transcript": "ENST00000615148.5",
"protein_id": "ENSP00000482573.2",
"transcript_support_level": 5,
"aa_start": 500,
"aa_end": null,
"aa_length": 609,
"cds_start": 1500,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1623,
"cdna_end": null,
"cdna_length": 2076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "n.*1157C>T",
"hgvs_p": null,
"transcript": "ENST00000589215.5",
"protein_id": "ENSP00000467852.1",
"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": 1945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "n.*1157C>T",
"hgvs_p": null,
"transcript": "ENST00000589215.5",
"protein_id": "ENSP00000467852.1",
"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": 1945,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.86-306G>A",
"hgvs_p": null,
"transcript": "ENST00000593280.2",
"protein_id": "ENSP00000467150.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 41,
"cds_start": -4,
"cds_end": null,
"cds_length": 126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1356C>T",
"hgvs_p": "p.Tyr452Tyr",
"transcript": "NM_001318709.1",
"protein_id": "NP_001305638.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 609,
"cds_start": 1356,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1505,
"cdna_end": null,
"cdna_length": 2057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1356C>T",
"hgvs_p": "p.Tyr452Tyr",
"transcript": "NM_001276342.1",
"protein_id": "NP_001263271.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 561,
"cds_start": 1356,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1505,
"cdna_end": null,
"cdna_length": 1958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1029C>T",
"hgvs_p": "p.Tyr343Tyr",
"transcript": "NM_001318707.1",
"protein_id": "NP_001305636.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 500,
"cds_start": 1029,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1420,
"cdna_end": null,
"cdna_length": 1972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1029C>T",
"hgvs_p": "p.Tyr343Tyr",
"transcript": "NM_001318708.1",
"protein_id": "NP_001305637.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 452,
"cds_start": 1029,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1564,
"cdna_end": null,
"cdna_length": 1992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1029C>T",
"hgvs_p": "p.Tyr343Tyr",
"transcript": "XM_047437486.1",
"protein_id": "XP_047293442.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 500,
"cds_start": 1029,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 1898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1029C>T",
"hgvs_p": "p.Tyr343Tyr",
"transcript": "XM_047437487.1",
"protein_id": "XP_047293443.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 500,
"cds_start": 1029,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 1791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "n.68C>T",
"hgvs_p": null,
"transcript": "ENST00000589409.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "n.*501C>T",
"hgvs_p": null,
"transcript": "ENST00000590870.5",
"protein_id": "ENSP00000464875.1",
"transcript_support_level": 5,
"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": 2102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "n.169C>T",
"hgvs_p": null,
"transcript": "ENST00000591367.5",
"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": 721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "n.69C>T",
"hgvs_p": null,
"transcript": "ENST00000592682.1",
"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": 387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "n.123C>T",
"hgvs_p": null,
"transcript": "ENST00000593081.5",
"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": 675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "n.*501C>T",
"hgvs_p": null,
"transcript": "ENST00000590870.5",
"protein_id": "ENSP00000464875.1",
"transcript_support_level": 5,
"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": 2102,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.430+3322G>A",
"hgvs_p": null,
"transcript": "ENST00000591107.6",
"protein_id": "ENSP00000468438.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": -4,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 890,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.509-679G>A",
"hgvs_p": null,
"transcript": "ENST00000586150.5",
"protein_id": "ENSP00000468321.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 174,
"cds_start": -4,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 571,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.163+3322G>A",
"hgvs_p": null,
"transcript": "ENST00000590723.5",
"protein_id": "ENSP00000464755.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 59,
"cds_start": -4,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 755,
"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": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.3805+3322G>A",
"hgvs_p": null,
"transcript": "XM_005258277.1",
"protein_id": "XP_005258334.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1303,
"cds_start": -4,
"cds_end": null,
"cds_length": 3912,
"cdna_start": null,
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"splice_prediction_selected": "Benign",
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{
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"BP7",
"BS1",
"BS2"
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{
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"BS1",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}