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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: 18-23526674-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=23526674&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 23526674,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_013326.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1098A>C",
"hgvs_p": "p.Ile366Ile",
"transcript": "NM_013326.5",
"protein_id": "NP_037458.3",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 657,
"cds_start": 1098,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000269221.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013326.5"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1098A>C",
"hgvs_p": "p.Ile366Ile",
"transcript": "ENST00000269221.8",
"protein_id": "ENSP00000269221.2",
"transcript_support_level": 1,
"aa_start": 366,
"aa_end": null,
"aa_length": 657,
"cds_start": 1098,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013326.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269221.8"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.954A>C",
"hgvs_p": "p.Ile318Ile",
"transcript": "ENST00000590868.5",
"protein_id": "ENSP00000467007.1",
"transcript_support_level": 2,
"aa_start": 318,
"aa_end": null,
"aa_length": 609,
"cds_start": 954,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590868.5"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1098A>C",
"hgvs_p": "p.Ile366Ile",
"transcript": "ENST00000615148.5",
"protein_id": "ENSP00000482573.2",
"transcript_support_level": 5,
"aa_start": 366,
"aa_end": null,
"aa_length": 609,
"cds_start": 1098,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615148.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "n.*755A>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000589215.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "n.*755A>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000589215.5"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1146A>C",
"hgvs_p": "p.Ile382Ile",
"transcript": "ENST00000897724.1",
"protein_id": "ENSP00000567783.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 673,
"cds_start": 1146,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897724.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1113A>C",
"hgvs_p": "p.Ile371Ile",
"transcript": "ENST00000926737.1",
"protein_id": "ENSP00000596796.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 662,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926737.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1098A>C",
"hgvs_p": "p.Ile366Ile",
"transcript": "ENST00000897720.1",
"protein_id": "ENSP00000567779.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 656,
"cds_start": 1098,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897720.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1065A>C",
"hgvs_p": "p.Ile355Ile",
"transcript": "ENST00000897725.1",
"protein_id": "ENSP00000567784.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 646,
"cds_start": 1065,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897725.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1041A>C",
"hgvs_p": "p.Ile347Ile",
"transcript": "ENST00000949335.1",
"protein_id": "ENSP00000619394.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 638,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949335.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1098A>C",
"hgvs_p": "p.Ile366Ile",
"transcript": "ENST00000949337.1",
"protein_id": "ENSP00000619396.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 637,
"cds_start": 1098,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949337.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1098A>C",
"hgvs_p": "p.Ile366Ile",
"transcript": "ENST00000897721.1",
"protein_id": "ENSP00000567780.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 631,
"cds_start": 1098,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897721.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1011A>C",
"hgvs_p": "p.Ile337Ile",
"transcript": "ENST00000897722.1",
"protein_id": "ENSP00000567781.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 628,
"cds_start": 1011,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897722.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1098A>C",
"hgvs_p": "p.Ile366Ile",
"transcript": "ENST00000949338.1",
"protein_id": "ENSP00000619397.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 622,
"cds_start": 1098,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949338.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.954A>C",
"hgvs_p": "p.Ile318Ile",
"transcript": "NM_001318709.1",
"protein_id": "NP_001305638.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 609,
"cds_start": 954,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318709.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1098A>C",
"hgvs_p": "p.Ile366Ile",
"transcript": "ENST00000897726.1",
"protein_id": "ENSP00000567785.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 595,
"cds_start": 1098,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897726.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.954A>C",
"hgvs_p": "p.Ile318Ile",
"transcript": "NM_001276342.1",
"protein_id": "NP_001263271.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 561,
"cds_start": 954,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276342.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.792A>C",
"hgvs_p": "p.Ile264Ile",
"transcript": "ENST00000897723.1",
"protein_id": "ENSP00000567782.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 555,
"cds_start": 792,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897723.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.627A>C",
"hgvs_p": "p.Ile209Ile",
"transcript": "NM_001318707.1",
"protein_id": "NP_001305636.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 500,
"cds_start": 627,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318707.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.624A>C",
"hgvs_p": "p.Ile208Ile",
"transcript": "ENST00000949336.1",
"protein_id": "ENSP00000619395.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 499,
"cds_start": 624,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949336.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.627A>C",
"hgvs_p": "p.Ile209Ile",
"transcript": "NM_001318708.1",
"protein_id": "NP_001305637.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 452,
"cds_start": 627,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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{
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"BP7",
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{
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],
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}