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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: 7-66240984-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=66240984&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 66240984,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003596.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST1",
"gene_hgnc_id": 12020,
"hgvs_c": "c.559C>G",
"hgvs_p": "p.Arg187Gly",
"transcript": "NM_003596.4",
"protein_id": "NP_003587.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 370,
"cds_start": 559,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000304842.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003596.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST1",
"gene_hgnc_id": 12020,
"hgvs_c": "c.559C>G",
"hgvs_p": "p.Arg187Gly",
"transcript": "ENST00000304842.6",
"protein_id": "ENSP00000302413.5",
"transcript_support_level": 1,
"aa_start": 187,
"aa_end": null,
"aa_length": 370,
"cds_start": 559,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003596.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304842.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TPST1",
"gene_hgnc_id": 12020,
"hgvs_c": "n.189+35462C>G",
"hgvs_p": null,
"transcript": "ENST00000480281.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "pseudogene",
"feature": "ENST00000480281.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST1",
"gene_hgnc_id": 12020,
"hgvs_c": "c.559C>G",
"hgvs_p": "p.Arg187Gly",
"transcript": "ENST00000649664.1",
"protein_id": "ENSP00000497281.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 370,
"cds_start": 559,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649664.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST1",
"gene_hgnc_id": 12020,
"hgvs_c": "c.559C>G",
"hgvs_p": "p.Arg187Gly",
"transcript": "ENST00000904436.1",
"protein_id": "ENSP00000574495.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 370,
"cds_start": 559,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904436.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST1",
"gene_hgnc_id": 12020,
"hgvs_c": "c.559C>G",
"hgvs_p": "p.Arg187Gly",
"transcript": "ENST00000904437.1",
"protein_id": "ENSP00000574496.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 370,
"cds_start": 559,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904437.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST1",
"gene_hgnc_id": 12020,
"hgvs_c": "c.559C>G",
"hgvs_p": "p.Arg187Gly",
"transcript": "ENST00000904438.1",
"protein_id": "ENSP00000574497.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 370,
"cds_start": 559,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904438.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST1",
"gene_hgnc_id": 12020,
"hgvs_c": "c.559C>G",
"hgvs_p": "p.Arg187Gly",
"transcript": "ENST00000904439.1",
"protein_id": "ENSP00000574498.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 370,
"cds_start": 559,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904439.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST1",
"gene_hgnc_id": 12020,
"hgvs_c": "c.559C>G",
"hgvs_p": "p.Arg187Gly",
"transcript": "ENST00000904441.1",
"protein_id": "ENSP00000574500.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 370,
"cds_start": 559,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904441.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST1",
"gene_hgnc_id": 12020,
"hgvs_c": "c.559C>G",
"hgvs_p": "p.Arg187Gly",
"transcript": "ENST00000904442.1",
"protein_id": "ENSP00000574501.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 370,
"cds_start": 559,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904442.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST1",
"gene_hgnc_id": 12020,
"hgvs_c": "c.559C>G",
"hgvs_p": "p.Arg187Gly",
"transcript": "ENST00000904443.1",
"protein_id": "ENSP00000574502.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 370,
"cds_start": 559,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904443.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST1",
"gene_hgnc_id": 12020,
"hgvs_c": "c.559C>G",
"hgvs_p": "p.Arg187Gly",
"transcript": "ENST00000904445.1",
"protein_id": "ENSP00000574504.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 370,
"cds_start": 559,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904445.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST1",
"gene_hgnc_id": 12020,
"hgvs_c": "c.559C>G",
"hgvs_p": "p.Arg187Gly",
"transcript": "ENST00000904446.1",
"protein_id": "ENSP00000574505.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 370,
"cds_start": 559,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904446.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST1",
"gene_hgnc_id": 12020,
"hgvs_c": "c.559C>G",
"hgvs_p": "p.Arg187Gly",
"transcript": "ENST00000904447.1",
"protein_id": "ENSP00000574506.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 370,
"cds_start": 559,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904447.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST1",
"gene_hgnc_id": 12020,
"hgvs_c": "c.559C>G",
"hgvs_p": "p.Arg187Gly",
"transcript": "ENST00000904448.1",
"protein_id": "ENSP00000574507.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 370,
"cds_start": 559,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904448.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST1",
"gene_hgnc_id": 12020,
"hgvs_c": "c.559C>G",
"hgvs_p": "p.Arg187Gly",
"transcript": "ENST00000904449.1",
"protein_id": "ENSP00000574508.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 370,
"cds_start": 559,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904449.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST1",
"gene_hgnc_id": 12020,
"hgvs_c": "c.559C>G",
"hgvs_p": "p.Arg187Gly",
"transcript": "ENST00000935281.1",
"protein_id": "ENSP00000605340.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 370,
"cds_start": 559,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935281.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST1",
"gene_hgnc_id": 12020,
"hgvs_c": "c.559C>G",
"hgvs_p": "p.Arg187Gly",
"transcript": "ENST00000935284.1",
"protein_id": "ENSP00000605343.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 370,
"cds_start": 559,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935284.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST1",
"gene_hgnc_id": 12020,
"hgvs_c": "c.559C>G",
"hgvs_p": "p.Arg187Gly",
"transcript": "ENST00000935285.1",
"protein_id": "ENSP00000605344.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 370,
"cds_start": 559,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935285.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST1",
"gene_hgnc_id": 12020,
"hgvs_c": "c.559C>G",
"hgvs_p": "p.Arg187Gly",
"transcript": "ENST00000967658.1",
"protein_id": "ENSP00000637717.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 370,
"cds_start": 559,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967658.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST1",
"gene_hgnc_id": 12020,
"hgvs_c": "c.559C>G",
"hgvs_p": "p.Arg187Gly",
"transcript": "ENST00000967659.1",
"protein_id": "ENSP00000637718.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 370,
"cds_start": 559,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967659.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST1",
"gene_hgnc_id": 12020,
"hgvs_c": "c.559C>G",
"hgvs_p": "p.Arg187Gly",
"transcript": "ENST00000967660.1",
"protein_id": "ENSP00000637719.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 370,
"cds_start": 559,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967660.1"
},
{
"aa_ref": "R",
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