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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: X-20013069-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=20013069&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 20013069,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001168465.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1870G>T",
"hgvs_p": "p.Val624Phe",
"transcript": "NM_001168465.2",
"protein_id": "NP_001161937.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 773,
"cds_start": 1870,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379643.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168465.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1870G>T",
"hgvs_p": "p.Val624Phe",
"transcript": "ENST00000379643.10",
"protein_id": "ENSP00000368964.5",
"transcript_support_level": 1,
"aa_start": 624,
"aa_end": null,
"aa_length": 773,
"cds_start": 1870,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001168465.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379643.10"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1747G>T",
"hgvs_p": "p.Val583Phe",
"transcript": "ENST00000379651.7",
"protein_id": "ENSP00000368972.3",
"transcript_support_level": 1,
"aa_start": 583,
"aa_end": null,
"aa_length": 732,
"cds_start": 1747,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379651.7"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1945G>T",
"hgvs_p": "p.Val649Phe",
"transcript": "ENST00000970014.1",
"protein_id": "ENSP00000640074.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 798,
"cds_start": 1945,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970014.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1846G>T",
"hgvs_p": "p.Val616Phe",
"transcript": "ENST00000970005.1",
"protein_id": "ENSP00000640064.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 765,
"cds_start": 1846,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970005.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1846G>T",
"hgvs_p": "p.Val616Phe",
"transcript": "ENST00000970009.1",
"protein_id": "ENSP00000640069.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 765,
"cds_start": 1846,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970009.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1822G>T",
"hgvs_p": "p.Val608Phe",
"transcript": "ENST00000875378.1",
"protein_id": "ENSP00000545437.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 757,
"cds_start": 1822,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875378.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1813G>T",
"hgvs_p": "p.Val605Phe",
"transcript": "ENST00000970001.1",
"protein_id": "ENSP00000640062.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 754,
"cds_start": 1813,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970001.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1792G>T",
"hgvs_p": "p.Val598Phe",
"transcript": "ENST00000918363.1",
"protein_id": "ENSP00000588422.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 747,
"cds_start": 1792,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918363.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1789G>T",
"hgvs_p": "p.Val597Phe",
"transcript": "ENST00000875379.1",
"protein_id": "ENSP00000545438.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 746,
"cds_start": 1789,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875379.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1747G>T",
"hgvs_p": "p.Val583Phe",
"transcript": "NM_152780.4",
"protein_id": "NP_689993.2",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 732,
"cds_start": 1747,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152780.4"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1744G>T",
"hgvs_p": "p.Val582Phe",
"transcript": "ENST00000970017.1",
"protein_id": "ENSP00000640076.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 731,
"cds_start": 1744,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970017.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1735G>T",
"hgvs_p": "p.Val579Phe",
"transcript": "ENST00000970007.1",
"protein_id": "ENSP00000640066.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 728,
"cds_start": 1735,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970007.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1711G>T",
"hgvs_p": "p.Val571Phe",
"transcript": "ENST00000875380.1",
"protein_id": "ENSP00000545439.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 720,
"cds_start": 1711,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875380.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1678G>T",
"hgvs_p": "p.Val560Phe",
"transcript": "ENST00000970016.1",
"protein_id": "ENSP00000640075.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 709,
"cds_start": 1678,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970016.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1666G>T",
"hgvs_p": "p.Val556Phe",
"transcript": "ENST00000970012.1",
"protein_id": "ENSP00000640071.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 705,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970012.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1612G>T",
"hgvs_p": "p.Val538Phe",
"transcript": "NM_001168466.2",
"protein_id": "NP_001161938.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 687,
"cds_start": 1612,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168466.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1612G>T",
"hgvs_p": "p.Val538Phe",
"transcript": "ENST00000443379.7",
"protein_id": "ENSP00000388239.3",
"transcript_support_level": 2,
"aa_start": 538,
"aa_end": null,
"aa_length": 687,
"cds_start": 1612,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443379.7"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1591G>T",
"hgvs_p": "p.Val531Phe",
"transcript": "NM_001168467.2",
"protein_id": "NP_001161939.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 680,
"cds_start": 1591,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168467.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1591G>T",
"hgvs_p": "p.Val531Phe",
"transcript": "ENST00000452324.3",
"protein_id": "ENSP00000413301.3",
"transcript_support_level": 2,
"aa_start": 531,
"aa_end": null,
"aa_length": 680,
"cds_start": 1591,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452324.3"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1969G>T",
"hgvs_p": "p.Val657Phe",
"transcript": "XM_006724481.3",
"protein_id": "XP_006724544.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 806,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724481.3"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1936G>T",
"hgvs_p": "p.Val646Phe",
"transcript": "XM_011545483.2",
"protein_id": "XP_011543785.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 795,
"cds_start": 1936,
"cds_end": null,
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