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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: 5-178142936-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=178142936&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 178142936,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_022762.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.370A>C",
"hgvs_p": "p.Ile124Leu",
"transcript": "NM_022762.5",
"protein_id": "NP_073599.2",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 393,
"cds_start": 370,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000313386.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022762.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.370A>C",
"hgvs_p": "p.Ile124Leu",
"transcript": "ENST00000313386.9",
"protein_id": "ENSP00000320623.4",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 393,
"cds_start": 370,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022762.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313386.9"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.532A>C",
"hgvs_p": "p.Ile178Leu",
"transcript": "ENST00000940697.1",
"protein_id": "ENSP00000610756.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 447,
"cds_start": 532,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940697.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.532A>C",
"hgvs_p": "p.Ile178Leu",
"transcript": "ENST00000940698.1",
"protein_id": "ENSP00000610757.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 447,
"cds_start": 532,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940698.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.394A>C",
"hgvs_p": "p.Ile132Leu",
"transcript": "ENST00000890015.1",
"protein_id": "ENSP00000560074.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 401,
"cds_start": 394,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890015.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.394A>C",
"hgvs_p": "p.Ile132Leu",
"transcript": "ENST00000890019.1",
"protein_id": "ENSP00000560078.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 401,
"cds_start": 394,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890019.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.370A>C",
"hgvs_p": "p.Ile124Leu",
"transcript": "NM_001288794.2",
"protein_id": "NP_001275723.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 393,
"cds_start": 370,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288794.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.370A>C",
"hgvs_p": "p.Ile124Leu",
"transcript": "ENST00000515098.5",
"protein_id": "ENSP00000420875.1",
"transcript_support_level": 2,
"aa_start": 124,
"aa_end": null,
"aa_length": 393,
"cds_start": 370,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515098.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.370A>C",
"hgvs_p": "p.Ile124Leu",
"transcript": "ENST00000890008.1",
"protein_id": "ENSP00000560067.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 393,
"cds_start": 370,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890008.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.370A>C",
"hgvs_p": "p.Ile124Leu",
"transcript": "ENST00000890009.1",
"protein_id": "ENSP00000560068.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 393,
"cds_start": 370,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890009.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.370A>C",
"hgvs_p": "p.Ile124Leu",
"transcript": "ENST00000890010.1",
"protein_id": "ENSP00000560069.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 393,
"cds_start": 370,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890010.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.370A>C",
"hgvs_p": "p.Ile124Leu",
"transcript": "ENST00000890011.1",
"protein_id": "ENSP00000560070.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 393,
"cds_start": 370,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890011.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.370A>C",
"hgvs_p": "p.Ile124Leu",
"transcript": "ENST00000890012.1",
"protein_id": "ENSP00000560071.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 393,
"cds_start": 370,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890012.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.370A>C",
"hgvs_p": "p.Ile124Leu",
"transcript": "ENST00000890013.1",
"protein_id": "ENSP00000560072.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 393,
"cds_start": 370,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890013.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.370A>C",
"hgvs_p": "p.Ile124Leu",
"transcript": "ENST00000890014.1",
"protein_id": "ENSP00000560073.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 393,
"cds_start": 370,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890014.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.370A>C",
"hgvs_p": "p.Ile124Leu",
"transcript": "ENST00000890016.1",
"protein_id": "ENSP00000560075.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 393,
"cds_start": 370,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890016.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.370A>C",
"hgvs_p": "p.Ile124Leu",
"transcript": "ENST00000890017.1",
"protein_id": "ENSP00000560076.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 393,
"cds_start": 370,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890017.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.370A>C",
"hgvs_p": "p.Ile124Leu",
"transcript": "ENST00000890018.1",
"protein_id": "ENSP00000560077.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 393,
"cds_start": 370,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890018.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.370A>C",
"hgvs_p": "p.Ile124Leu",
"transcript": "ENST00000890020.1",
"protein_id": "ENSP00000560079.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 393,
"cds_start": 370,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890020.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.370A>C",
"hgvs_p": "p.Ile124Leu",
"transcript": "ENST00000940695.1",
"protein_id": "ENSP00000610754.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 393,
"cds_start": 370,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940695.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.370A>C",
"hgvs_p": "p.Ile124Leu",
"transcript": "ENST00000940696.1",
"protein_id": "ENSP00000610755.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 393,
"cds_start": 370,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940696.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.370A>C",
"hgvs_p": "p.Ile124Leu",
"transcript": "ENST00000940699.1",
"protein_id": "ENSP00000610758.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 393,
"cds_start": 370,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"verdict": "Uncertain_significance",
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}
],
"message": null
}