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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: 1-156737426-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156737426&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156737426,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024540.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL24",
"gene_hgnc_id": 14037,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208Gln",
"transcript": "NM_145729.3",
"protein_id": "NP_663781.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 216,
"cds_start": 623,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361531.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145729.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL24",
"gene_hgnc_id": 14037,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208Gln",
"transcript": "ENST00000361531.6",
"protein_id": "ENSP00000354525.2",
"transcript_support_level": 1,
"aa_start": 208,
"aa_end": null,
"aa_length": 216,
"cds_start": 623,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_145729.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361531.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL24",
"gene_hgnc_id": 14037,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208Gln",
"transcript": "ENST00000368211.8",
"protein_id": "ENSP00000357194.4",
"transcript_support_level": 1,
"aa_start": 208,
"aa_end": null,
"aa_length": 216,
"cds_start": 623,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368211.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL24",
"gene_hgnc_id": 14037,
"hgvs_c": "c.644G>A",
"hgvs_p": "p.Arg215Gln",
"transcript": "ENST00000915502.1",
"protein_id": "ENSP00000585561.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 223,
"cds_start": 644,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915502.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL24",
"gene_hgnc_id": 14037,
"hgvs_c": "c.641G>A",
"hgvs_p": "p.Arg214Gln",
"transcript": "ENST00000858122.1",
"protein_id": "ENSP00000528181.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 222,
"cds_start": 641,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858122.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL24",
"gene_hgnc_id": 14037,
"hgvs_c": "c.629G>A",
"hgvs_p": "p.Arg210Gln",
"transcript": "ENST00000858120.1",
"protein_id": "ENSP00000528179.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 218,
"cds_start": 629,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858120.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL24",
"gene_hgnc_id": 14037,
"hgvs_c": "c.629G>A",
"hgvs_p": "p.Arg210Gln",
"transcript": "ENST00000858125.1",
"protein_id": "ENSP00000528184.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 218,
"cds_start": 629,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858125.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL24",
"gene_hgnc_id": 14037,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208Gln",
"transcript": "NM_024540.4",
"protein_id": "NP_078816.2",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 216,
"cds_start": 623,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024540.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL24",
"gene_hgnc_id": 14037,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208Gln",
"transcript": "ENST00000858113.1",
"protein_id": "ENSP00000528172.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 216,
"cds_start": 623,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858113.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL24",
"gene_hgnc_id": 14037,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208Gln",
"transcript": "ENST00000858114.1",
"protein_id": "ENSP00000528173.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 216,
"cds_start": 623,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858114.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL24",
"gene_hgnc_id": 14037,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208Gln",
"transcript": "ENST00000858115.1",
"protein_id": "ENSP00000528174.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 216,
"cds_start": 623,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858115.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL24",
"gene_hgnc_id": 14037,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208Gln",
"transcript": "ENST00000858116.1",
"protein_id": "ENSP00000528175.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 216,
"cds_start": 623,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858116.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL24",
"gene_hgnc_id": 14037,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208Gln",
"transcript": "ENST00000858117.1",
"protein_id": "ENSP00000528176.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 216,
"cds_start": 623,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858117.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL24",
"gene_hgnc_id": 14037,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208Gln",
"transcript": "ENST00000858118.1",
"protein_id": "ENSP00000528177.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 216,
"cds_start": 623,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858118.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL24",
"gene_hgnc_id": 14037,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208Gln",
"transcript": "ENST00000858119.1",
"protein_id": "ENSP00000528178.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 216,
"cds_start": 623,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858119.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL24",
"gene_hgnc_id": 14037,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208Gln",
"transcript": "ENST00000858121.1",
"protein_id": "ENSP00000528180.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 216,
"cds_start": 623,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858121.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL24",
"gene_hgnc_id": 14037,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208Gln",
"transcript": "ENST00000858123.1",
"protein_id": "ENSP00000528182.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 216,
"cds_start": 623,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858123.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL24",
"gene_hgnc_id": 14037,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208Gln",
"transcript": "ENST00000858124.1",
"protein_id": "ENSP00000528183.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 216,
"cds_start": 623,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858124.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL24",
"gene_hgnc_id": 14037,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208Gln",
"transcript": "ENST00000858126.1",
"protein_id": "ENSP00000528185.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 216,
"cds_start": 623,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858126.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL24",
"gene_hgnc_id": 14037,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208Gln",
"transcript": "ENST00000858127.1",
"protein_id": "ENSP00000528186.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 216,
"cds_start": 623,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858127.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL24",
"gene_hgnc_id": 14037,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208Gln",
"transcript": "ENST00000858128.1",
"protein_id": "ENSP00000528187.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 216,
"cds_start": 623,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858128.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL24",
"gene_hgnc_id": 14037,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208Gln",
"transcript": "ENST00000858129.1",
"protein_id": "ENSP00000528188.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 216,
"cds_start": 623,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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"phenotype_combined": "not specified",
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}
],
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}